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  • The Long Journey from Diagnosis to Therapy.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2020-03-02
    Kay E Davies

    I was honored to be asked by the Editorial Committee of the Annual Review of Genomics and Genetics to write an autobiographical account of my life in science and in genetics in particular. The field has moved from mapping Mendelian disorders 40 years ago to the delivery of effective therapies for some monogenic disorders today. My 40-year journey from diagnosis to therapy for Duchenne muscular dystrophy

    更新日期:2020-03-02
  • Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2020-01-31
    Brunhilde Wirth,Mert Karakaya,Min Jeong Kye,Natalia Mendoza-Ferreira

    Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified. Homozygous deletions or, rarely, subtle mutations of SMN1 cause SMA, and the copy number of the nearly identical copy gene SMN2 inversely correlates with disease severity. SMA has become a paradigm and a prime example of a monogenic

    更新日期:2020-01-31
  • Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2020-01-21
    Yann Joly,Charles Dupras,Miriam Pinkesz,Stacey A Tovino,Mark A Rothstein

    Genetic discrimination (GD) is consistently associated with research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities

    更新日期:2020-01-21
  • The Regulation of Mitochondrial Replacement Techniques Around the World.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2020-01-21
    I Glenn Cohen,Eli Y Adashi,Sara Gerke,César Palacios-González,Vardit Ravitsky

    Mitochondrial replacement techniques (MRTs, also referred to as mitochondrial replacement therapies) have given hope to many women who wish to have genetically related children but have mitochondrial DNA mutations in their eggs. MRTs have also spurred deep ethical disagreemensts and led to different regulatory approaches worldwide. In this review, we discuss the current regulation of MRTs across several

    更新日期:2020-01-21
  • An Accidental Genetic Epidemiologist.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2020-01-14
    Robert C Elston

    I briefly describe my early life and how, through a series of serendipitous events, I became a genetic epidemiologist. I discuss how the Elston-Stewart algorithm was discovered and its contribution to segregation, linkage, and association analysis. New linkage findings and paternity testing resulted from having a genotyping lab. The different meanings of interaction-statistical and biological-are clarified

    更新日期:2020-01-14
  • Clinical utility of contemporary molecular cytogenetics.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-10-25
    Bassem A Bejjani,Lisa G Shaffer

    The development of microarray-based comparative genomic hybridization (array CGH) methods represents a critical new advance in molecular cytogenetics. This new technology has driven a technical convergence between molecular diagnostics and clinical cytogenetics, questioned our naïve understanding of the complexity of the human genome, revolutionized the practice of medical genetics, challenged conventional

    更新日期:2019-11-01
  • ENU mutagenesis, a way forward to understand gene function.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-10-25
    Abraham Acevedo-Arozena,Sara Wells,Paul Potter,Michelle Kelly,Roger D Cox,Steve D M Brown

    Arguably, the main challenge for contemporary genetics is to understand the function of every gene in a mammalian genome. The mouse has emerged as a model for this task because its genome can be manipulated in a number of ways to study gene function or mimic disease states. Two complementary genetic approaches can be used to generate mouse models. A reverse genetics or gene-driven approach (gene to

    更新日期:2019-11-01
  • Cohesin and human disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Jinglan Liu,Ian D Krantz

    Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible

    更新日期:2019-11-01
  • Transgenerational epigenetic effects.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Neil A Youngson,Emma Whitelaw

    Transgenerational epigenetic effects include all processes that have evolved to achieve the nongenetic determination of phenotype. There has been a long-standing interest in this area from evolutionary biologists, who refer to it as non-Mendelian inheritance. Transgenerational epigenetic effects include both the physiological and behavioral (intellectual) transfer of information across generations

    更新日期:2019-11-01
  • Phylogenetic inference using whole genomes.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Bruce Rannala,Ziheng Yang

    The availability of genome-wide data provides unprecedented opportunities for resolving difficult phylogenetic relationships and for studying population genetic processes of mutation, selection, and recombination on a genomic scale. The use of appropriate statistical models becomes increasingly important when we are faced with very large datasets, which can lead to improved precision but not necessarily

    更新日期:2019-11-01
  • A mechanistic view of genomic imprinting.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Ky Sha

    Genomic imprinting results in the expression of genes in a parent-of-origin-dependent manner. The mechanism and developmental consequences of genomic imprinting are most well characterized in mammals, plants, and certain insect species (e.g., sciarid flies and coccid insects). However, researchers have observed imprinting phenomena in species in which imprinting of endogenous genes is not known to

    更新日期:2019-11-01
  • Transcriptional control of skeletogenesis.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Gerard Karsenty

    The skeleton contains three specific cell types: chondrocytes in cartilage and osteoblasts and osteoclasts in bone. Our understanding of the transcriptional mechanisms that lead to cell differentiation along these three lineages has increased considerably in the past ten years. In the case of chondrocytes and osteoblasts advances have been made possible largely through the molecular elucidation of

    更新日期:2019-11-01
  • The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Stuart Hogarth,Gail Javitt,David Melzer

    This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices

    更新日期:2019-11-01
  • The role of aminoacyl-tRNA synthetases in genetic diseases.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Anthony Antonellis,Eric D Green

    Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for performing the first step of protein synthesis. Specifically, ARSs attach amino acids to their cognate tRNA molecules in the cytoplasm and mitochondria. Recent studies have demonstrated that mutations in genes encoding ARSs can result in neurodegeneration, raising many questions about the role of these enzymes

    更新日期:2019-11-01
  • Infectious disease in the genomic era.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-09-05
    Xiaonan Yang,Hongliang Yang,Gangqiao Zhou,Guo-Ping Zhao

    After half a century of success in combating infectious diseases with vaccination and antibiotics, emerging and reemerging epidemics present a new threat to human health. Meanwhile, the rapid pace of viral and microbial genomics research, largely based on the success of genomics technologies, offers new data-generating platforms and a revolutionary knowledge base for better understanding the diseases

    更新日期:2019-11-01
  • African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-07-03
    Michael C Campbell,Sarah A Tishkoff

    Comparative studies of ethnically diverse human populations, particularly in Africa, are important for reconstructing human evolutionary history and for understanding the genetic basis of phenotypic adaptation and complex disease. African populations are characterized by greater levels of genetic diversity, extensive population substructure, and less linkage disequilibrium (LD) among loci compared

    更新日期:2019-11-01
  • Next-generation DNA sequencing methods.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-06-26
    Elaine R Mardis

    Recent scientific discoveries that resulted from the application of next-generation DNA sequencing technologies highlight the striking impact of these massively parallel platforms on genetics. These new methods have expanded previously focused readouts from a variety of DNA preparation protocols to a genome-wide scale and have fine-tuned their resolution to single base precision. The sequencing of

    更新日期:2019-11-01
  • Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-06-12
    Dianna M Milewicz,Dong-Chuan Guo,Van Tran-Fadulu,Andrea L Lafont,Christina L Papke,Sakiko Inamoto,Carrie S Kwartler,Hariyadarshi Pannu

    Thoracic aortic aneurysms leading to type A dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits

    更新日期:2019-11-01
  • From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-06-12
    Stephen M Prescott,Jean Marc Lalouel,Mark Leppert

    One of the early decisions in what became the Human Genome Project was to recruit families that would serve as a reference set, thereby focusing efforts to create human genetic maps on the same sets of DNA samples. The families recruited from Utah provided the most widely used samples in the Centre d'Etudes du Polymorphisme Humain (CEPH) set, were instrumental in generating human linkage maps, and

    更新日期:2019-11-01
  • Evolution of dim-light and color vision pigments.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-06-12
    Shozo Yokoyama

    A striking level of diversity of visual systems in different species reflects their adaptive responses to various light environments. To study the adaptive evolution of visual systems, we need to understand how visual pigments, the light-sensitive molecules, have tuned their wavelengths of light absorption. The molecular basis of spectral tuning in visual pigments, a central unsolved problem in phototransduction

    更新日期:2019-11-01
  • Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-06-12
    Marjan Huizing,Amanda Helip-Wooley,Wendy Westbroek,Meral Gunay-Aygun,William A Gahl

    Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components

    更新日期:2019-11-01
  • Linkage disequilibrium and association mapping.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-05-29
    B S Weir

    Linkage disequilibrium refers to the association between alleles at different loci. The standard definition applies to two alleles in the same gamete, and it can be regarded as the covariance of indicator variables for the states of those two alleles. The corresponding correlation coefficient rho is the parameter that arises naturally in discussions of tests of association between markers and genetic

    更新日期:2019-11-01
  • Positive selection in the human genome: from genome scans to biological significance.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-05-29
    Joanna L Kelley,Willie J Swanson

    Here we review the evidence for positive selection in the human genome and its role in human evolution and population differentiation. In recent years, there has been a dramatic increase in the use of genome-wide scans to identify adaptively evolving loci in the human genome. Attention is now turning to understanding the biological relevance and adaptive significance of the regions identified as being

    更新日期:2019-11-01
  • A bird's-eye view of sex chromosome dosage compensation.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-05-21
    Arthur P Arnold,Yuichiro Itoh,Esther Melamed

    Intensive study of a few genetically tractable species with XX/XY sex chromosomes has produced generalizations about the process of sex chromosome dosage compensation that do not fare well when applied to ZZ/ZW sex chromosome systems, such as those in birds. The inherent sexual imbalance in dose of sex chromosome genes has led to the evolution of sex-chromosome-wide mechanisms for balancing gene dosage

    更新日期:2019-11-01
  • Human telomere structure and biology.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-05-10
    Harold Riethman

    Human telomeric DNA is complex and highly variable. Subterminal sequences are associated with cis-acting determinants of allele-specific (TTAGGG)n tract length regulation and may modulate susceptibility of (TTAGGG)n tracts to rapid deletion events. More extensive subtelomeric DNA tracts are filled with segmental duplications and segments that vary in copy number, leading to highly variable subtelomeric

    更新日期:2019-11-01
  • Genetic predisposition to breast cancer: past, present, and future.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2008-01-01
    Clare Turnbull,Nazneen Rahman

    In recent years, our understanding of genetic predisposition to breast cancer has advanced significantly. Three classes of predisposition factors, categorized by their associated risks of breast cancer, are currently known. BRCA1 and BRCA2 are high-penetrance breast cancer predisposition genes identified by genome-wide linkage analysis and positional cloning. Mutational screening of genes functionally

    更新日期:2019-11-01
  • DNA strand break repair and human genetic disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-09-25
    Peter J McKinnon,Keith W Caldecott

    Each day tens of thousands of DNA single-strand breaks (SSBs) arise in every cell from the attack of deoxyribose and DNA bases by reactive oxygen species and other electrophilic molecules. DNA double-strand breaks (DSBs) also arise, albeit at a much lower frequency, from similar attacks and from the encounter of unrepaired SSBs and possibly other DNA structures by DNA replication forks. DSBs are also

    更新日期:2019-11-01
  • The uneasy ethical and legal underpinnings of large-scale genomic biobanks.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-06-07
    Henry T Greely

    Abstract Large-scale genomic databases are becoming increasingly common. These databases, and the underlying biobanks, pose several substantial legal and ethical problems. Neither the usual methods for protecting subject confidentiality, nor even anonymity, are likely to protect subjects' identities in richly detailed databases. Indeed, in these settings, anonymity is itself ethically suspect. New

    更新日期:2019-11-01
  • Using genomics to study how chromatin influences gene expression.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Douglas R Higgs,Douglas Vernimmen,Jim Hughes,Richard Gibbons

    A postgenome challenge is to understand how the code in DNA is converted into the biological processes underlying various cell fates. By establishing the appropriate technical tools, we are moving from an era in which such questions have been asked by studying individual genes to one in which large domains, whole chromosomes, and the entire human genome can be investigated. These developments will

    更新日期:2019-11-01
  • Repetitive sequences in complex genomes: structure and evolution.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Jerzy Jurka,Vladimir V Kapitonov,Oleksiy Kohany,Michael V Jurka

    Eukaryotic genomes contain vast amounts of repetitive DNA derived from transposable elements (TEs). Large-scale sequencing of these genomes has produced an unprecedented wealth of information about the origin, diversity, and genomic impact of what was once thought to be "junk DNA." This has also led to the identification of two new classes of DNA transposons, Helitrons and Polintons, as well as several

    更新日期:2019-11-01
  • Multistage sampling for genetic studies.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Robert C Elston,Danyu Lin,Gang Zheng

    In the past, to study Mendelian diseases, segregating families have been carefully ascertained for segregation analysis, followed by collecting extended multiplex families for linkage analysis. This would then be followed by association studies, using independent case-control samples and/or additional family data. Recently, for complex diseases, the initial sampling has been for a genome-wide linkage

    更新日期:2019-11-01
  • Annotating noncoding RNA genes.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Sam Griffiths-Jones

    Noncoding RNA genes produce a functional RNA product rather than a translated protein. More than 1500 homologs of known "classical" RNA genes can be annotated in the human genome sequence, and automatic homology-based methods predict up to 5000 related sequences. Methods to predict novel RNA genes on a whole-genome scale are immature at present, but their use hints at tens of thousands of such genes

    更新日期:2019-11-01
  • Congenital disorders of glycosylation: a rapidly expanding disease family.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Jaak Jaeken,Gert Matthijs

    Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. These disorders cause a wide range of human diseases, with examples emanating from all medical subspecialties. Since our 2001 review on CDG ( 36 ), this field has seen substantial growth: The number of N-glycosylation

    更新日期:2019-11-01
  • microRNAs in vertebrate physiology and human disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-18
    Tsung-Cheng Chang,Joshua T Mendell

    Over the past five years, the importance of a diverse class of 18-24 nucleotide RNA molecules, known as microRNAs (miRNAs) has increasingly been recognized. These highly conserved RNAs regulate the stability and translational efficiency of complementary target messenger RNAs. The human genome is now predicted to encode nearly 1,000 miRNAs that likely regulate at least one third of all human transcripts

    更新日期:2019-11-01
  • Host genetics of mycobacterial diseases in mice and men: forward genetic studies of BCG-osis and tuberculosis.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-12
    A Fortin,L Abel,J L Casanova,P Gros

    In humans, genetic factors have long been suspected to contribute to the onset and outcome of tuberculosis. Such effects are difficult to identify owing to their complex inheritance, and to the confounding impact of environmental factors, notably pathogen-associated virulence determinants. Recently, forward genetic approaches in mouse models and in human populations have been used to elucidate a molecular

    更新日期:2019-11-01
  • Computation and analysis of genomic multi-sequence alignments.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-11
    Mathieu Blanchette

    Multi-sequence alignments of large genomic regions are at the core of many computational genome-annotation approaches aimed at identifying coding regions, RNA genes, regulatory regions, and other functional features. Such alignments also underlie many genome-evolution studies. Here we review recent computational advances in the area of multi-sequence alignment, focusing on methods suitable for aligning

    更新日期:2019-11-01
  • Applications of RNA interference in mammalian systems.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-05
    Scott E Martin,Natasha J Caplen

    RNA interference (RNAi) can mediate the long- or short-term silencing of gene expression at the DNA, RNA, and/or protein level. Although several triggers of RNAi have been identified, the best characterized of these are small interfering RNAs (siRNAs), which can decrease gene expression through mRNA transcript cleavage, and endogenous microRNAs (miRNAs), which primarily inhibit protein translation

    更新日期:2019-11-01
  • Mapping, fine mapping, and molecular dissection of quantitative trait Loci in domestic animals.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-05
    Michel Georges

    Artificial selection has created myriad breeds of domestic animals, each characterized by unique phenotypes pertaining to behavior, morphology, physiology, and disease. Most domestic animal populations share features with isolated founder populations, making them well suited for positional cloning. Genome sequences are now available for most domestic species, and with them a panoply of tools including

    更新日期:2019-11-01
  • The pathophysiology of fragile x syndrome.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-05-05
    Olga Penagarikano,Jennifer G Mulle,Stephen T Warren

    Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype

    更新日期:2019-11-01
  • The genetic lexicon of dyslexia.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-04-21
    Silvia Paracchini,Thomas Scerri,Anthony P Monaco

    Reading abilities are acquired only through specific teaching and training. A significant proportion of children fail to achieve these skills despite normal intellectual abilities and an appropriate opportunity to learn. Difficulty in learning to read is attributable to specific dysfunctions of the brain, which so far remain poorly understood. However, it is recognized that the neurological basis for

    更新日期:2019-11-01
  • Human evolution and its relevance for genetic epidemiology.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-04-06
    Luigi Luca Cavalli-Sforza

    The invitation to write the prefatory article to this volume of the Annual Review of Genomics and Human Genetics inspired me to collect some thoughts, a few involving ideas that are not new, but perhaps worth resurrecting in light of recent observations made with the data emerging from the Human Genome Diversity Project (HGDP). Data from the many relevant studies based on the HGDP have been made public

    更新日期:2019-11-01
  • Gene duplication: a drive for phenotypic diversity and cause of human disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2007-03-28
    Bernard Conrad,Stylianos E Antonarakis

    Gene duplication is one of the key factors driving genetic innovation, i.e., producing novel genetic variants. Although the contribution of whole-genome and segmental duplications to phenotypic diversity across species is widely appreciated, the phenotypic spectrum and potential pathogenicity of small-scale duplications in individual genomes are less well explored. This review discusses the nature

    更新日期:2019-11-01
  • Pharmacogenetics and pharmacogenomics: development, science, and translation.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-09-05
    Richard M Weinshilboum,Liewei Wang

    Pharmacogenetics and pharmacogenomics involve the study of the role of inheritance in individual variation in drug response, a phenotype that varies from potentially life-threatening adverse drug reactions to equally serious lack of therapeutic efficacy. This discipline evolved from the convergence of rapid advances in molecular pharmacology and genomics. Originally, pharmacogenetic studies focused

    更新日期:2019-11-01
  • The killer immunoglobulin-like receptor gene cluster: tuning the genome for defense.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Arman A Bashirova,Maureen P Martin,Daniel W McVicar,Mary Carrington

    Killer immunoglobulin-like receptors (KIRs) are molecules expressed on the surface of natural killer (NK) cells, which play an important role in innate immunity. KIR recognition of major histocompatability complex (MHC) class I allotypes represents one component of the complex interactions between NK cells and their targets in determining NK cell reactivity. KIRs are encoded by a gene cluster at human

    更新日期:2019-11-01
  • A 60-year tale of spots, maps, and genes.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Victor A McKusick

    This is an account of almost 60 years' experience in the clinical delineation of genetic disorders, mapping genes on chromosomes, and cataloging human disease-related genes and genetic disorders. The origins of medical genetics as a clinical specialty, of the Human Genome Project, of genomics (including the term), and of HUGO are recounted.

    更新日期:2019-11-01
  • The laminopathies: the functional architecture of the nucleus and its contribution to disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Brian Burke,Colin L Stewart

    Most inherited diseases are associated with mutations in a specific gene. Often, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. Mutations in the Lamin A gene (LMNA), which encodes largely ubiquitously expressed nuclear proteins (A-type lamins), are

    更新日期:2019-11-01
  • Predicting the effects of amino acid substitutions on protein function.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Pauline C Ng,Steven Henikoff

    Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect protein function, they are believed to have the largest impact on human health compared with SNPs in other regions of the genome. Therefore, it is important to distinguish those nsSNPs that affect protein function from those that are

    更新日期:2019-11-01
  • Mouse chromosome engineering for modeling human disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Louise van der Weyden,Allan Bradley

    Chromosomal rearrangements are frequently in humans and can be disease-associated or phenotypically neutral. Recent technological advances have led to the discovery of copy-number changes previously undetected by cytogenetic techniques. To understand the genetic consequences of such genomic changes, these mutations need to be modeled in experimentally tractable systems. The mouse is an excellent organism

    更新日期:2019-11-01
  • Prediction of genomic functional elements.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-07-11
    Steven J M Jones

    As the number of sequenced genomes increases, the ability to deduce genome function becomes increasingly salient. For many genome sequences, the only annotation that will be available for the foreseeable future will be based on computational predictions and comparisons with functional elements in related species. Here we discuss computational approaches for automated genome-wide annotation of functional

    更新日期:2019-11-01
  • Structural variation of the human genome.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-06-20
    Andrew J Sharp,Ze Cheng,Evan E Eichler

    There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements

    更新日期:2019-11-01
  • Resources for genetic variation studies.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-06-09
    David Serre,Thomas J Hudson

    The rapid growth of genome-wide diversity databases, as well as ongoing large-scale resequencing projects targeting genes and other functional components of our genome, provide valuable resources of natural variation at the DNA sequence level. In this review, we briefly summarize the wealth of data on DNA polymorphisms in humans, the distribution of this diversity in the genome as well as among individuals

    更新日期:2019-11-01
  • Of flies and man: Drosophila as a model for human complex traits.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-06-08
    Trudy F C Mackay,Robert R H Anholt

    Understanding the genetic and environmental factors affecting human complex genetic traits and diseases is a major challenge because of many interacting genes with individually small effects, whose expression is sensitive to the environment. Dissection of complex traits using the powerful genetic approaches available with Drosophila melanogaster has provided important lessons that should be considered

    更新日期:2019-11-01
  • Structural and functional dynamics of human centromeric chromatin.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-06-08
    Mary G Schueler,Beth A Sullivan

    Centromeres are the elements of chromosomes that assemble the proteinaceous kinetochore, maintain sister chromatid cohesion, regulate chromosome attachment to the spindle, and direct chromosome movement during cell division. Although the functions of centromeres and the proteins that contribute to their complex structure and function are conserved in eukaryotes, centromeric DNA diverges rapidly. Human

    更新日期:2019-11-01
  • Preimplantation genetic diagnosis: an overview of socio-ethical and legal considerations.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-27
    Bartha M Knoppers,Sylvie Bordet,Rosario M Isasi

    Preimplantation genetic diagnosis (PGD) permits the selection of embryos of a particular genotype prior to implantation. As a reproductive technology involving embryo selection, PGD has become associated with considerable controversy. This review examines some of the ethical, legal, and social issues raised by PGD. Relevant ethical considerations include the status of the embryo and the interests and

    更新日期:2019-11-01
  • The evolutionary dynamics of human endogenous retroviral families.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-26
    Norbert Bannert,Reinhard Kurth

    The capacity to integrate into the chromosomal DNA of germ-line cells has endowed retroviruses with the potential to be vertically transmitted from generation to generation and eventually become fixed in the genomes of the entire population. This has been independently accomplished by several ancient retroviruses that invaded the genomes of our early and more recent primate and hominoid ancestors.

    更新日期:2019-11-01
  • Genetic disorders of adipose tissue development, differentiation, and death.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-26
    Anil K Agarwal,Abhimanyu Garg

    Lack of adipose tissue, either complete or partial, is the hallmark of disorders known as lipodystrophies. Patients with lipodystrophies suffer from metabolic complications similar to those associated with obesity, including insulin resistance, type 2 diabetes, hypertriglyceridemia, and hepatic steatosis. The loss of body fat in inherited lipodystrophies can be caused by defects in the development

    更新日期:2019-11-01
  • Genome-wide analysis of protein-DNA interactions.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-26
    Tae Hoon Kim,Bing Ren

    The human genome is predominantly composed of nonprotein-coding sequences whose function remains largely undefined. A significant portion of the noncoding DNA is believed to serve as transcriptional regulatory elements that control gene expression in specific cell types at appropriate developmental stages. Identifying these regulatory sequences and determining the mechanisms by which they act present

    更新日期:2019-11-01
  • Protein misfolding and human disease.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-26
    Niels Gregersen,Peter Bross,Søren Vang,Jane H Christensen

    Protein misfolding is a common event in living cells. In young and healthy cells, the misfolded protein load is disposed of by protein quality control (PQC) systems. In aging cells and in cells from certain individuals with genetic diseases, the load may overwhelm the PQC capacity, resulting in accumulation of misfolded proteins. Dependent on the properties of the protein and the efficiency of the

    更新日期:2019-11-01
  • The ciliopathies: an emerging class of human genetic disorders.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-26
    Jose L Badano,Norimasa Mitsuma,Phil L Beales,Nicholas Katsanis

    Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia

    更新日期:2019-11-01
  • Transcriptional regulatory elements in the human genome.
    Annu. Rev. Genomics Hum. Genet. (IF 7.914) Pub Date : 2006-05-25
    Glenn A Maston,Sara K Evans,Michael R Green

    The faithful execution of biological processes requires a precise and carefully orchestrated set of steps that depend on the proper spatial and temporal expression of genes. Here we review the various classes of transcriptional regulatory elements (core promoters, proximal promoters, distal enhancers, silencers, insulators/boundary elements, and locus control regions) and the molecular machinery (general

    更新日期:2019-11-01
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