当前位置: X-MOL 学术Hum. Hered. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.
Human Heredity ( IF 1.8 ) Pub Date : 2017-11-14 , DOI: 10.1159/000481434
Janis Stavusis 1 , Inna Inashkina , Baiba Lace , Dita Pelnena , Svetlana Limborska , Andrey Khrunin , Vaidutis Kucinskas , Astrida Krumina , Linda Piekuse , Branko Zorn , Violeta Fodina , Margus Punab , Juris Erenpreiss
Affiliation  

OBJECTIVES The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane protein abundantly expressed in several tissues, including the kidney, heart, and sperm. Knockout of PMCA4 causes infertility due to immotile sperm in mouse models. We therefore investigated variants in this gene for potential association with infertility in groups of Estonian (n = 191) and Latvian (n = 92) men with reduced sperm motility. METHODS All exons, exon-intron boundaries, 5' and 3' untranslated regions, and the promoter region of the PMCA4 gene were analysed by direct sequencing for a group of Estonian infertile men. Genotyping of guanine and adenine alleles of rs147729934 was performed, using a custom-designed TaqMan® probe for a group of Latvian infertile men as well as additional groups from Latvia and several groups of people with proven ethnicity from the Baltic region. RESULTS Although we did not identify any significant associations between variants in the gene and infertility, our results indicated that in all studied Latvian and Estonian groups the adenine allele of the variant rs147729934 was present at a higher frequency than expected. Analysis of additional samples indicated that the adenine allele of rs147729934 likely originated once in the modern-day Baltic or western Russia area, as the frequency of the minor adenine allele observed in this region is remarkably higher than that in the general European population. CONCLUSIONS Our results revealed no significant difference in frequencies of genetic variants in PMCA4 gene between men with normal and those with reduced sperm motility. The adenine allele of the variant rs147729934 is potentially an informative tool for future population studies concerning ancient Baltic and Finno-Ugric history.

中文翻译:

PMCA4基因中新的波罗的海特定人群人类遗传标记。

目的PMCA基因家族由4个基因和至少21个剪接变体组成;该基因家族包括:其中,Ca2 + ATPase 4(PMCA4)基因编码在许多组织(包括肾脏,心脏和精子)中大量表达的质膜蛋白。剔除PMCA4会导致小鼠模型中的精子不动而导致不育。因此,我们研究了该基因的变异体与爱沙尼亚(n = 191)和拉脱维亚(n = 92)精子活动力降低的男性不育症的潜在关联。方法通过直接测序分析一组爱沙尼亚不育男性的所有外显子,外显子-内含子边界,5'和3'非翻译区以及PMCA4基因的启动子区。进行了rs147729934的鸟嘌呤和腺嘌呤等位基因的基因分型,使用定制设计的TaqMan®探针为一组拉脱维亚不育男性以及拉脱维亚的其他人群和波罗的海地区经证实的种族的几批人群提供服务。结果尽管我们没有发现基因变异与不育之间的任何显着关联,但我们的结果表明,在所有拉脱维亚和爱沙尼亚研究组中,rs147729934变异的腺嘌呤等位基因的出现频率高于预期。对其他样本的分析表明,rs147729934的腺嘌呤等位基因可能起源于现代波罗的海或俄罗斯西部地区,因为在该地区观察到的次要腺嘌呤等位基因的频率明显高于欧洲普通人群。结论我们的结果显示,正常男性和精子活力降低的男性之间PMCA4基因遗传变异的频率没有显着差异。rs147729934变体的腺嘌呤等位基因可能是有关古代波罗的海和芬诺-乌里克历史的未来人口研究的有益工具。
更新日期:2019-11-01
down
wechat
bug