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Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25) Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-12-16 Sharmila Ghosh; Candice F. Carden; Rytis Juras; Mayra N. Mendoza; Matthew J. Jevit; Caitlin Castaneda; Olivia Phelps; Jessie Dube; Dale E. Kelley; Dickson D. Varner; Charley C. Love; Terje Raudsepp
We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated
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Partial 5p Gain and 15q Loss in Three Patients from a Family with a t(5;15)(p13.3;q26.3) Translocation Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-12-14 Fernanda T. Bellucco; Bianca P. Favilla; Eduardo Perrone; Maria I. Melaragno
Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They presented a similar combination of clinical findings
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Fertility Relevance Probability Analysis Shortlists Genetic Markers for Male Fertility Impairment Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-25 Thomas Greither; Julia Schumacher; Mario Dejung; Hermann M. Behre; Hans Zischler; Falk Butter; Holger Herlyn
Impairment of male fertility is one of the major public health issues worldwide. Nevertheless, genetic causes of male sub- and infertility can often only be suspected due to the lack of reliable and easy-to-use routine tests. Yet, the development of a marker panel is complicated by the large quantity of potentially predictive markers. Actually, hundreds or even thousands of genes could have fertility
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Chromosomal Evolution in Aspredinidae (Teleostei, Siluriformes): Insights on Intra- and Interspecific Relationships with Related Groups Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-23 Milena Ferreira; Isac S. de Jesus; Patrik F. Viana; Caroline Garcia; Daniele A. Matoso; Marcelo B. Cioffi; Luiz A.C. Bertollo; Eliana Feldberg
The family Aspredinidae comprises a clade of complex systematic relationships, both from molecular and morphological approaches. In this study, conventional and molecular cytogenetic studies coupled with nucleotide sequencing were performed in 6 Aspredininae species (Amaralia hypsiura, Bunocephalus cf. aloikae, Bunocephalus amaurus, Bunocephalus aff. coracoideus, Bunocephalus verrucosus, and Platystacus
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The Karyotype of Blainville’s Beaked Whale, Mesoplodon densirostris Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-18 Ross Brookwell; Kimberly Finlayson; Jason P. van de Merwe
The karyotype of the Odontocete whale, Mesoplodon densirostris, has not been previously reported. The chromosome number is determined to be 2n = 42, and the karyotype is presented using G-, C-, and nucleolar organizer region (NOR) banding. The findings include NOR regions on 2 chromosomes, regions of heterochromatic variation, a large block of heterochromatin on the X chromosome, and a relatively large
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Karyotype Characterisation of Two Australian Dragon Lizards (Squamata: Agamidae: Amphibolurinae) Reveals Subtle Chromosomal Rearrangements Between Related Species with Similar Karyotypes Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-18 Shayer M.I. Alam; Stephen D. Sarre; Arthur Georges; Tariq Ezaz
Agamid lizards (Squamata: Agamidae) are karyotypically heterogeneous. Among the 101 species currently described from Australia, all are from the subfamily Amphibolurinae. This group is, with some exceptions, karyotypically conserved, and all species involving heterogametic sex show female heterogamety. Here, we describe the chromosomes of 2 additional Australian agamid lizards, Tympanocryptis lineata
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Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14 Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-17 Voula Velissariou; Francis Sachinidi; Stavroula Christopoulou; Lina Florentin; Thomas Liehr; Alexandra Efthymiadou; Eleni Angelopoulou; Dionisios Chrysis; Eunice G. Stefanou
Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient’s peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore
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Chromosomal Locations of a Non-LTR Retrotransposon, Menolird18, in Cucumis melo and Cucumis sativus, and Its Implication on Genome Evolution of Cucumis Species Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-10 Agus B. Setiawan; Chee H. Teo; Shinji Kikuchi; Hidenori Sassa; Kenji Kato; Takato Koba
Mobile elements are major regulators of genome evolution through their effects on genome size and chromosome structure in higher organisms. Non-long terminal repeat (non-LTR) retrotransposons, one of the subclasses of transposons, are specifically inserted into repetitive DNA sequences. While studies on the insertion of non-LTR retrotransposons into ribosomal RNA genes and other repetitive DNA sequences
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Lapatinib Decreases the Preimplantation Aneuploidy Rate of in vitro Fertilized Mouse Embryos without Affecting Completion of Preimplantation Development Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-11 Parvaneh Maleki; Hamid Gourabi; Mohammad Tahmaseb; Afsaneh Golkar-Narenji; Masood Bazrgar
One of the major reasons for implantation failure and spontaneous abortion is a high incidence of preimplantation chromosomal aneuploidy. Lapatinib simultaneously inhibits EGFR and HER2, leading to apoptosis. We hypothesized a higher sensitivity for aneuploid cells in preimplantation embryos to lapatinib based on reports of aneuploid cell lines being sensitive to some anticancer drugs. Late 2-cell
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New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-06 Incilay Kalay Yildizhan; Ezgi Gökpınar İli; Alexandros Onoufriadis; Pelin Kocyigit; Evangelia Kesidou; Michael A. Simpson; John A. McGrath; Nüket Yürür Kutlay; Nihal Kundakci
Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development
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Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-05 Mayra N. Mendoza; Sam A. Schalnus; Bitsy Thomson; Rebecca R. Bellone; Rytis Juras; Terje Raudsepp
Complex structural X chromosome abnormalities are rare in humans and animals, and not recurrent. Yet, each case provides a fascinating opportunity to evaluate X chromosome content and functional status in relation to the effect on the phenotype. Here, we report the first equine case of a complex unbalanced X-autosome rearrangement in a healthy but short in stature Thoroughbred mare. Studies of about
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Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-11-05 Martha L. Ornelas-Arana; Guillermo Pérez-Garcia; Carla D. Robles-Espinoza; Martha M. Rangel-Sosa; Carolina Castaneda-Garcia; Clara I. Juárez-Vázquez; Leopoldo G. López-Pérez; Carolina Pérez-Ornelas; Guillermo Hernández-Zaragoza; Ricardo A. Lara-Aguilar; Carlos Córdova-Fletes
“Simple” 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailing an about 12-Mb pure gain of 1q21.3q23.3 that causes typical (microcephaly, developmental delay, and facial
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Comparative Cytogenetics of Four Sea Turtle Species (Cheloniidae): G-Banding Pattern and in situ Localization of Repetitive DNA Units Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-10-29 Caroline R.D. Machado; Larissa Glugoski; Camila Domit; Marcela B. Pucci; Daphne W. Goldberg; Layse A. Marinho; Gideão W.W.F. da Costa; Viviane Nogaroto; Marcelo R. Vicari
Sea turtles are considered flagship species for marine biodiversity conservation and are considered to be at varying risk of extinction globally. Cases of hybridism have been reported in sea turtles, but chromosomal analyses are limited to classical karyotype descriptions and a few molecular cytogenetic studies. In order to compare karyotypes and understand evolutive mechanisms related to chromosome
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Teresa Capriglione (1959–2020) Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-10-23 Ettore Olmo
Cytogenet Genome Res
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LncRNA MALAT1 Promotes STAT3-Mediated Endothelial Inflammation by Counteracting the Function of miR-590 Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-10-06 Qing Zhou; Qi Run; Chen-Yu Li; Xiang-Yu Xiong; Xiao-Lin Wu
The excessive production of inflammatory mediators by vascular endothelial cells (ECs) greatly contributes to the development of atherosclerosis. In this study, we explored the potential effect of lncRNA MALAT1 on endothelial inflammation. First, the EC inflammation model was constructed by treating human umbilical vein ECs (HUVECs) and human coronary artery ECs (HCAECs) with oxidized low-density lipoprotein
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Evidence of Rubus Yellow Net Virus Integration into the Red Raspberry Genome. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-07-18 Alfredo Diaz-Lara,Nola J Mosier,Kristian Stevens,Karen E Keller,Robert R Martin
Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are noninfectious; however, a few cases have been reported where they excised from the plant
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Intra-Protein Coevolution Is Increasingly Functional with Greater Proximity to Fertilization. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-07-18 Marcel Kwiatkowski,Abdul R Asif,Julia Schumacher,Bertram Brenig,Hans Zischler,Holger Herlyn
Intramolecular coevolution of amino acid sites has repeatedly been studied to improve predictions on protein structure and function. Thereby, the focus was on bacterial proteins with available crystallographic data. However, intramolecular coevolution has not yet been compared between protein sets along a gradient of functional proximity to fertilization. This is especially true for the potential effect
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Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-07-14 Xing Lv,Wei-Qing Wu,Jia-Xun Zhang,Liu-Fei Miao,Bai-Zeng Yu,Fang-Fang Chen,Ying-Xia Cui,Zheng-Kun Xia,Zhi-Hong Liu,Xiao-Jun Li
X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused by COL4A5 gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects that contribute to disease pathogenesis. Here, we accidentally discovered 2 COL4A5 gene splicing mutations affecting the same residue (c.2917+1G>A and c.2917+1G>C) in 2
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Loss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-07-14 Bela Barros,Mariana Morais,Ana Luísa Teixeira,Rui Medeiros
Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. Usually, LOY occurrence increases with chronological age in healthy men. Moreover, recently LOY has been reported in association with several diseases, such as cancer, where its frequency is even higher. The Y chromosome is one of the shortest chromosomes of the human karyotype, and it
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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-27 Abdullah Sezer,Gülsüm Kayhan,Altuğ Koç,Mehmet A Ergün,Ferda E Perçin
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30)
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Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-24 Tao Zhang,Miguel A Guzman,Jacqueline R Batanian
Based on a literature review and our database, we report on the smallest 14q deletion identified in a brain tumor characterized by 1p/19q codeletion low-grade oligodendroglioma. In 2013, array-comparative genomic hybridization of the brain tumor revealed 1p/19q codeletion as a sole abnormality. In 2019, the patient relapsed showing additional abnormalities including a 14q deletion of 16.5 Mb at 14q24
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X-Chromosome Inactivation during Preimplantation Development and in Pluripotent Stem Cells. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-24 Paola Rebuzzini,Maurizio Zuccotti,Silvia Garagna
X dosage compensation between XX female and XY male mammalian cells is achieved by a process known as X-chromosome inactivation (XCI). XCI initiates early during preimplantation development in female cells, and it is subsequently stably maintained in somatic cells. However, XCI is a reversible process that occurs in vivo in the inner cell mass of the blastocyst, in primordial germ cells or in spermatids
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Truncated RUNX1 Generated by the Fusion of RUNX1 to Antisense GRIK2 via a Cryptic Chromosome Translocation Enhances Sensitivity to Granulocyte Colony-Stimulating Factor. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-16 Akihiro Abe,Yukiya Yamamoto,Akira Katsumi,Hideyuki Yamamoto,Akinao Okamoto,Yoko Inaguma,Chisako Iriyama,Masutaka Tokuda,Masataka Okamoto,Nobuhiko Emi,Akihiro Tomita
Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-year-old male patient who was initially diagnosed with acute myeloid leukemia, in
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Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-13 Malú Zamariolli,Adriana Di-Battista,Mariana Moysés-Oliveira,Cláudia B de Mello,Marco A de Paula Ramos,Thomas Liehr,Maria I Melaragno
Balanced chromosomal rearrangements are usually associated with a normal phenotype, although in some individuals, phenotypic alterations are observed. In these patients, molecular characterization of the breakpoints can reveal the pathogenic mechanism, providing the annotation of disease-associated loci and a better genotype-phenotype correlation. In this study, we describe a patient with a balanced
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Sequence Evolution, Abundance, and Chromosomal Distribution of Ty1-copia Retrotransposons in the Saccharum spontaneum Genome. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-06-10 Shan Yang,Kai Zeng,Ke Chen,Xinwang Zhao,Jiayun Wu,Yongji Huang,Muqing Zhang,Zuhu Deng
Saccharum spontaneum is a wild germplasm resource of the genus Saccharum that has many valuable traits. Ty1-copia retrotransposons constitute a large proportion of plant genomes and affect genome sequence organization and evolution. This study aims to analyze the sequence heterogeneity, phylogenetic diversity, copy number, and chromosomal dispersion patterns of Ty1-copia retrotransposons in S. spontaneum
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Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-30 Lisa De Lorenzi,Alfredo Pauciullo,Alessandra Iannuzzi,Pietro Parma
Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences in the chromosome classification, the 2 karyotypes are very similar in banding patterns
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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-30 Ekaterina N Tolmacheva,Anna A Kashevarova,Lyudmila P Nazarenko,Larisa I Minaycheva,Nikolay A Skryabin,Maria E Lopatkina,Tatyana V Nikitina,Elena A Sazhenova,Elena O Belyaeva,Elizaveta A Fonova,Olga A Salyukova,Victor S Tarabykin,Igor N Lebedev
Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may segregate through several generations without any clinical symptoms until the epigenetic modifications no longer function. We report 2 novel cases of Xq24
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Different Levels of Chromatin Condensation in Partamona chapadicola and Partamona nhambiquara (Hymenoptera, Apidae). Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-30 Denilce M Lopes,Natália M Travenzoli,Anderson Fernandes,Lucio A O Campos
Studies in several organisms have contributed to the understanding of heterochromatin and its biological importance. In bees of the tribe Meliponini, the presence of chromosomes with totally heterochromatic arms has been attributed to the mechanism of karyotype evolution in which this group accumulated heterochromatin to maintain telomere stability after centric fission events. In the present study
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Molecular Cytogenetic Analysis of Karyotype and Y Chromosome Conservation in Species of the Genus Talpa (Insectivora). Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-09 Juana Gutierrez,Gael Aleix-Mata,Juan A Marchal,María Arroyo,Riccardo Castiglia,Antonio Sánchez
The Talpidae family has a highly stable karyotype. Most of the chromosome studies in this mammal group, however, employed classical cytogenetic techniques. Molecular cytogenetic analyses are still scarce and, for example, no repeated DNA sequences have been described to date. In this work, we used sequence analysis, chromosomal mapping of a LINE1 retroelement sequence, as well as chromosome painting
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Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-09 Atsushi Hattori,Maki Fukami
During gametogenesis, the human genome can acquire various de novo rearrangements. Most constitutional genomic rearrangements are created through 1 of the 4 well-known mechanisms, i.e., nonallelic homologous recombination, erroneous repair after double-strand DNA breaks, replication errors, and retrotransposition. However, recent studies have identified 2 types of extremely complex rearrangements that
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Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-06 Daniel Martínez Anaya,Liliana Fernández Hernández,Ariadna González Del Angel,Miguel A Alcántara Ortigoza,Verónica Ulloa Avilés,Patricia Pérez Vera
Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic characterization of a 5-year-old boy with nonmosaic trisomy 19p13.3p13.2 (7.38 Mb),
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Introducing the Bird Chromosome Database: An Overview of Cytogenetic Studies in Birds. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-06 Tiago M Degrandi,Suziane A Barcellos,Alice L Costa,Analía D V Garnero,Iris Hass,Ricardo J Gunski
Bird chromosomes, which have been investigated scientifically for more than a century, present a number of unique features. In general, bird karyotypes have a high diploid number (2n) of typically around 80 chromosomes that are divided into macro- and microchromosomes. In recent decades, FISH studies using whole chromosome painting probes have shown that the macrochromosomes evolved through both inter-
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Cytogenetic and Molecular Characterization of Three Mimetic Species of the Genus Alagoasa Bechyné 1955 (Coleoptera: Alticinae) from the Neotropical Region. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-05-06 Matheus Azambuja,Lucas A M Rosolen,Roberto F Artoni,Mateus H Santos,Mara C Almeida
Coleoptera is a mega-diverse order, but only about 1% of its species have been analyzed cytogenetically. In this order, the subfamily Alticinae presents many identification problems, mainly due to the occurrence of mimicry. The objective of this work was to cytogenetically characterize 3 very similar species of the genus Alagoasa (A. pantina, A.areata, and A.scissa). We used classical and molecular
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Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-04-22 Beth Kirk,Mira Kharbanda,Mark S Bateman,David Hunt,Emma-Jane Taylor,Amanda L Collins,David J Bunyan,Morag N Collinson,Louisa M Russell,Sarah Bowell,John C K Barber
A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among
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Transposable DNA Elements in Amazonian Fish: From Genome Enlargement to Genetic Adaptation to Stressful Environments. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-04-10 Francijara A da Silva,Erika M Corrêa Guimarães,Natália D M Carvalho,Alex M V Ferreira,Carlos H Schneider,Gislene A Carvalho-Zilse,Eliana Feldberg,Maria C Gross
Transposable elements have driven genome evolution and plasticity in many ways across a range of organisms. Different types of biotic and abiotic stresses can stimulate the expression or transposition of these mobile elements. Here, we cytogenetically analyzed natural fish populations of the same species living under different environmental conditions to test the influence and organization of transposable
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Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-04-04 Takema Kato,Miki Kawai,Shunsuke Miyai,Fumihiko Suzuki,Makiko Tsutsumi,Seiji Mizuno,Toshiro Ikeda,Hiroki Kurahashi
We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5
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Identification of Some Errors in the Genome Assembly of Bovidae by FISH. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-04-02 Lisa De Lorenzi,Pietro Parma
From an economic point of view, Bovidae represent the most important family of the Ruminantia suborder. Thus, the mitochondrial and nuclear genomes of Bos taurus were among the first genomes to be sequenced after the sequencing of the human genomes. Over the millennia, the evolution of the genomes of the 3 main species belonging to the Bovidae family - B. taurus (BTA), Ovis aries (OAR), and Capra hircus
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Application of Tris-HCl Allows the Specific Labeling of Regularly Prepared Chromosomes by CRISPR-FISH. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-21 Bhanu P Potlapalli,Veit Schubert,Janina Metje-Sprink,Thomas Liehr,Andreas Houben
Visualizing the spatiotemporal organization of the genome will improve our understanding of how chromatin structure and function are intertwined. Here, we describe the further development of the RNA-guided endonuclease-in situ labeling (RGEN-ISL) method CRISPR-FISH. Using soybean and mouse chromosomes, we demonstrate that the treatment of conventionally fixed chromosomes (in ethanol or methanol:acetic
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A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-18 Pauline Monin,Nicolas Reynaud,Nadine Hanna,Sophie Dupuis-Girod,Marianne Till,Pauline Arnaud,Audrey Labalme,Eudeline Alix,Coline Poizat-Amar,Marie Faoucher,Lucie Ravella,Bernard Debost,Jean-François Obadia,Jean-Christophe Zech,Catherine Boileau,Damien Sanlaville,Patrick Edery,Audrey Putoux,Caroline Schluth-Bolard
In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative
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Molecular Cytogenetic Analysis and Meiotic Pairing Behavior of Progenies Originating from a Hexaploid Triticale (×Triticosecale, Wittmack) and Bread Wheat (Triticum aestivum, L.) Cross. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-14 Aybeniz J Aliyeva,András Farkas,Naib Kh Aminov,Klaudia Kruppa,Márta Molnár-Láng,Edina Türkösi
The chromosomal constitution of 9 dwarf (D) and 8 semidwarf (SD) lines derived by crossing hexaploid Triticale line NA-75 (AABBRR, 2n = 6x = 42) with Triticumaestivum (AABBDD, 2n = 6x = 42) cv. Chinese Spring was investigated using molecular cytogenetic techniques: fluorescence in situ hybridization and genomic in situ hybridization. A wheat-rye translocation (T4DS.7RL), 8 substitution lines, and a
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Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-11 Amal M Mohamed,Maha M Eid,Ola M Eid,Shymaa H Hussein,Aida M Mossaad,Usama Abdelfattah,Mohab A Sharafuddin,Yasser M El Halafawy,Tarek M Elbanoby,Ghada M H Abdel-Salam
Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft
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Addressing Long-Standing Questions with Advanced Approaches: The 4th B Chromosome Conference. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-07 Cesar Martins,Vladimir Trifonov,Andreas Houben
B chromosomes (Bs) are enigmatic accessory genomic elements extensively characterized in diverse eukaryotes. Since their discovery in the beginning of the 20th century, B chromosomes have been the subject of investigation in laboratories all around the world. As a consequence, scientific meetings have dealt with B chromosomes, including the most specific and important conference in the field, "The
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Great Abundance of Satellite DNA in Proceratophrys (Anura, Odontophrynidae) Revealed by Genome Sequencing. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-07 Marcelo J da Silva,Raquel Fogarin Destro,Thiago Gazoni,Hideki Narimatsu,Paulo S Pereira Dos Santos,Célio F B Haddad,Patricia P Parise-Maltempi
Most eukaryotic genomes contain substantial portions of repetitive DNA sequences. These are located primarily in highly compacted heterochromatin and, in many cases, are one of the most abundant components of the sex chromosomes. In this sense, the anuran Proceratophrys boiei represents an interesting model for analyses on repetitive sequences by means of cytogenetic techniques, since it has a karyotype
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Identification and Characterization of γ-Ray-Induced Mutations in Rice Cytoplasmic Genomes by Whole-Genome Sequencing. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-03-07 Yunchao Zheng,Shan Li,Jianzhong Huang,Longjiang Fan,Qingyao Shu
Chloroplasts and mitochondria are semi-autonomous organelles and have their own genomes (cytoplasmic genomes). Physical radiations (e.g., γ-rays) have been widely used in artificial mutation induction for plant germplasm enhancement and for breeding new cultivars. However, little is known at the genomic level about which kind of cytoplasmic mutations and/or characteristics could be induced in plants
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Chromosome Painting Does Not Support a Sex Chromosome Turnover in Lacerta agilis Linnaeus, 1758. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-25 Artem P Lisachov,Massimo Giovannotti,Jorge C Pereira,Daria A Andreyushkova,Svetlana A Romanenko,Malcolm A Ferguson-Smith,Pavel M Borodin,Vladimir A Trifonov
Reptiles show a remarkable diversity of sex determination mechanisms and sex chromosome systems, derived from different autosomal pairs. The origin of the ZW sex chromosomes of Lacerta agilis, a widespread Eurasian lizard species, is a matter of discussion: is it a small macrochromosome from the 11-18 group common to all lacertids, or does this species have a unique ZW pair derived from the large chromosome
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microRNA-422a Inhibits DCC Expression in a Manner Dependent on SNP rs12607853. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-25 Yunxiao Li,Xugang Shi,Xintong Cai,Yongsheng Zhu,Yuanyuan Chen,Jianghua Lai
DCC netrin 1 receptor (DCC) affects the structure and function of the dopamine circuitry, which in turn affects the susceptibility to developing addiction. In a previous study, we found that single nucleotide polymorphism (SNP) rs12607853 in the 3' untranslated region (3'-UTR) of DCC was significantly associated with heroin addiction. In the current study, we first used bioinformatics prediction to
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First Record on Sex Chromosomes in a Species of the Family Cynodontidae: Cynodon gibbus (Agassiz, 1829). Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-25 Vanessa S Pinheiro Figliuolo,Leonardo Goll,Patrik Ferreira Viana,Eliana Feldberg,Maria C Gross
The fish family Cynodontidae belongs to the superfamily Curimatoidea, together with the Hemiodontidae, Serrasalmidae, Parodontidae, Prochilodontidae, Chilodontidae, Curimatidae, and Anostomidae. The majority of the species of this superfamily that have been analyzed to date have a diploid chromosome number of 2n = 54. Differentiated sex chromosomes (with female heterogamety) have been observed only
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Heteromorphic Sex Chromosomes and Their DNA Content in Fish: An Insight through Satellite DNA Accumulation in Megaleporinus elongatus. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-25 Carolina Crepaldi,Patricia P Parise-Maltempi
The repetitive DNA content of fish sex chromosomes provides valuable insights into specificities and patterns of their genetic sex determination systems. In this study, we revealed the genomic satellite DNA (satDNA) content of Megaleporinuselongatus, a Neotropical fish species with Z1Z1Z2Z2/Z1W1Z2W2 multiple sex chromosomes, through high-throughput analysis and graph-based clustering, isolating 68
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The Karyotype of Salvator merianae (Squamata, Teiidae): Analyses by Classical and Molecular Cytogenetic Techniques. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-15 Marcelo J da Silva,Ana P de Araújo Vieira,Flávia M Galvão Cipriano,Maria R Dos Santos Cândido,Edivaldo H C de Oliveira,Tamaris Gimenez Pinheiro,Edson L da Silva
In this study, we analyzed the karyotype of Salvator merianae (Teiidae) from the Brazilian semiarid region using different cytogenetic markers. Chromosomes were examined by classical (Giemsa and AgNOR staining) and molecular (FISH with ribosomal, telomeric, and microsatellite probes) cytogenetic approaches. S. merianae showed a diploid chromosome number of 2n = 38 (10 biarmed macrochromosomes + 28
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Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-08 Shuya Xue,Huanchen Yan,Jingsi Chen,Nan Li,Jiayan Wang,Yu Liu,Huimin Zhang,Shaoying Li,Wei Zhang,Dunjin Chen,Min Chen
This study aims to investigate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in fetuses with increased nuchal translucency (defined as NT above the 95th centile for the crown-rump length). A total of 374 singleton pregnancies with gestational ages ranging from 11 to 13 + 6 weeks were investigated. Ultrasound displayed increased NT and no detectable structural malformations
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Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-05 Claudia Ciaccio,Serena Redaelli,Angela Bentivegna,Susan Marelli,Francesca Crosti,Elena M Sala,Ugo Cavallari
Unbalanced X;autosome translocations are a rare occurrence with a wide variability in clinical presentation in which the X chromosome unbalance is usually mitigated by a favorable X inactivation pattern. In most cases, this compensation mechanism is incomplete, and the patients show a syndromic clinical presentation. We report the case of a family with 4 women, of 3 different generations, carrying
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A Novel Variant Rearrangement of the Rare Aberration dic(17;20)(p11.2;q11.2) Characterized by Array-CGH as an Insertion in a Patient with Myelodysplastic Syndrome of Multilineage Dysplasia (MDS-MLD). Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-05 Maryna A Vazmitsel,Vasiliki Grammatopoulou,Jianhui Yao,Jacqueline R Batanian
We report on a novel variant of the dicentric chromosome 17;20 (dic (17;20)(p11.2;q11.2) in a patient with de novo myelodysplastic syndrome (MDS). Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 20 with breakpoints at 20q11.22 and 20q13.33. Based on conventional chromosome analysis and G-banding patterns, the region 17p11
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Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-02-01 Eric Dahlen,Sinziana I Sarghi,Florian Renosi,Christophe Ferrand,Marie-Agnes Collonge-Rame,Paul Kuentz
Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cases remain very scarce. The possible involvement of increasing copies of potential proto-oncogenes located on the multiple idic(Y) led to consider one of
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Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-01-24 Şule Altıner,Nüket Yürür Kutlay,Hatice Ilgın Ruhi
Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous
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Balancing Retrospection and Visions: The Cytogenetics Group of the Society of Plant Breeding (GPZ) Came Together in Dresden. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2020-01-14 Tony Heitkam
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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2019-11-30 Lucía S Massara,Marisol Delea,Lucía Espeche,Carlos D Bruque,Jaen Oliveri,Paloma Brun,Lilian Furforo,Liliana Dain,Sandra Rozental
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell
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Characterization of VvSPL18 and Its Expression in Response to Exogenous Hormones during Grape Berry Development and Ripening. Cytogenet. Genome Res. (IF 1.114) Pub Date : 2019-11-23 Zhenqiang Xie,Ziwen Su,Wenran Wang,Le Guan,Yunhe Bai,Xudong Zhu,Xicheng Wang,Haifeng Jia,Jinggui Fang,Chen Wang
The sequence and structure of grape SBP-box-like18 (VvSPL18) were identified and characterized to explore its regulatory roles during grape berry development and ripening. Homologous conservation across diverse plant species was observed, and its potential function and modulated roles in grapes were investigated. The results showed that VvSPL18 has an ORF sequence of 1,137 bp, encodes 378 amino acids