{"title":"X 中心染色单体驱动可能是多囊卵巢综合症和其他疾病流行的原因:人类 X 染色体中心周边区域的基因组结构与多囊卵巢综合症和其他疾病相关的减数分裂驱动一致。","authors":"Tom Moore","doi":"10.1002/bies.202400056","DOIUrl":null,"url":null,"abstract":"<p>X chromosome centromeric drive may explain the prevalence of polycystic ovary syndrome and contribute to oocyte aneuploidy, menopause, and other conditions. The mammalian X chromosome may be vulnerable to meiotic drive because of X inactivation in the female germline. The human X pericentromeric region contains genes potentially involved in meiotic mechanisms, including multiple <i>SPIN1</i> and <i>ZXDC</i> paralogs. This is consistent with a multigenic drive system comprising differential modification of the active and inactive X chromosome centromeres in female primordial germ cells and preferential segregation of the previously inactivated X chromosome centromere to the polar body at meiosis I. The drive mechanism may explain differences in X chromosome regulation in the female germlines of the human and mouse and, based on the functions encoded by the genes in the region, the transmission of X pericentromeric genetic or epigenetic variants to progeny could contribute to preeclampsia, autism, and differences in sexual differentiation.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400056","citationCount":"0","resultStr":"{\"title\":\"X centromeric drive may explain the prevalence of polycystic ovary syndrome and other conditions\",\"authors\":\"Tom Moore\",\"doi\":\"10.1002/bies.202400056\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>X chromosome centromeric drive may explain the prevalence of polycystic ovary syndrome and contribute to oocyte aneuploidy, menopause, and other conditions. The mammalian X chromosome may be vulnerable to meiotic drive because of X inactivation in the female germline. The human X pericentromeric region contains genes potentially involved in meiotic mechanisms, including multiple <i>SPIN1</i> and <i>ZXDC</i> paralogs. This is consistent with a multigenic drive system comprising differential modification of the active and inactive X chromosome centromeres in female primordial germ cells and preferential segregation of the previously inactivated X chromosome centromere to the polar body at meiosis I. The drive mechanism may explain differences in X chromosome regulation in the female germlines of the human and mouse and, based on the functions encoded by the genes in the region, the transmission of X pericentromeric genetic or epigenetic variants to progeny could contribute to preeclampsia, autism, and differences in sexual differentiation.</p>\",\"PeriodicalId\":9264,\"journal\":{\"name\":\"BioEssays\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2024-07-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400056\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BioEssays\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/bies.202400056\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BioEssays","FirstCategoryId":"99","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/bies.202400056","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
X 染色体中心粒驱动可能是多囊卵巢综合征发病率高的原因,也是造成卵母细胞非整倍体、绝经和其他疾病的原因。哺乳动物的 X 染色体可能容易受到减数分裂驱动的影响,因为雌性生殖细胞中的 X 染色体失活。人类 X 近染色质区含有可能参与减数分裂机制的基因,包括多个 SPIN1 和 ZXDC 旁系亲属。这与多基因驱动系统一致,该系统包括对雌性原始生殖细胞中活跃和不活跃的 X 染色体中心粒进行不同的修饰,以及在减数分裂 I 期将先前失活的 X 染色体中心粒优先分离到极体。该驱动机制可以解释人类和小鼠雌性生殖细胞中 X 染色体调控的差异,根据该区域基因编码的功能,X 染色体中心粒遗传变异或表观遗传变异传递给后代可能导致先兆子痫、自闭症和性分化差异。
X centromeric drive may explain the prevalence of polycystic ovary syndrome and other conditions
X chromosome centromeric drive may explain the prevalence of polycystic ovary syndrome and contribute to oocyte aneuploidy, menopause, and other conditions. The mammalian X chromosome may be vulnerable to meiotic drive because of X inactivation in the female germline. The human X pericentromeric region contains genes potentially involved in meiotic mechanisms, including multiple SPIN1 and ZXDC paralogs. This is consistent with a multigenic drive system comprising differential modification of the active and inactive X chromosome centromeres in female primordial germ cells and preferential segregation of the previously inactivated X chromosome centromere to the polar body at meiosis I. The drive mechanism may explain differences in X chromosome regulation in the female germlines of the human and mouse and, based on the functions encoded by the genes in the region, the transmission of X pericentromeric genetic or epigenetic variants to progeny could contribute to preeclampsia, autism, and differences in sexual differentiation.
期刊介绍:
molecular – cellular – biomedical – physiology – translational research – systems - hypotheses encouraged
BioEssays is a peer-reviewed, review-and-discussion journal. Our aims are to publish novel insights, forward-looking reviews and commentaries in contemporary biology with a molecular, genetic, cellular, or physiological dimension, and serve as a discussion forum for new ideas in these areas. An additional goal is to encourage transdisciplinarity and integrative biology in the context of organismal studies, systems approaches, through to ecosystems, where appropriate.