Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy
Folco, H. Diego; Chalamcharla, Venkata R.; Sugiyama, Tomoyasu; Thillainadesan, Gobi; Zofall, Martin; Balachandran, Vanivilasini; Dhakshnamoorthy, Jothy; Mizuguchi, Takeshi; Grewal, Shiv I. S.
2017
发表期刊NATURE
ISSN0028-0836
EISSN1476-4687
卷号543期号:7643页码:126+
发表状态已发表
DOI10.1038/nature21372
摘要

Uniparental disomy (UPD), in which an individual contains a pair of homologous chromosomes originating from only one parent, is a frequent phenomenon that is linked to congenital disorders and various cancers(1,2). UPD is thought to result mostly from pre- or post-zygotic chromosome missegregation(2). However, the factors that drive UPD remain unknown. Here we use the fission yeast Schizosaccharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi) machinery or in the YTH domain-containing RNA elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells. This phenomenon is not due to defects in heterochromatin assembly at centromeres. Notably, in cells lacking RNAi components or Mmi1, UPD is associated with the untimely expression of gametogenic genes. Deletion of the upregulated gene encoding the meiotic cohesin Rec8 or the cyclin Crs1 suppresses UPD in both RNAi and mmi1 mutants. Moreover, overexpression of Rec8 is sufficient to trigger UPD in wild-type cells. Rec8 expressed in vegetative cells localizes to chromosomal arms and to the centromere core, where it is required for localization of the cohesin subunit Psc3. The centromeric localization of Rec8 and Psc3 promotes UPD by uniquely affecting chromosome segregation, causing a reductional segregation of one homologue. Together, these findings establish the untimely vegetative expression of gametogenic genes as a causative factor of UPD, and provide a solid foundation for understanding this phenomenon, which is linked to diverse human diseases.

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收录类别SCI
语种英语
WOS研究方向Science & Technology - Other Topics
WOS类目Multidisciplinary Sciences
WOS记录号WOS:000395671500046
WOS关键词FACULTATIVE HETEROCHROMATIN FORMATION ; FISSION YEAST ; SCHIZOSACCHAROMYCES-POMBE ; CHROMOSOME SEGREGATION ; RAPID METHOD ; MEIOSIS-I ; COHESION ; CENTROMERES ; ELIMINATION ; ATTACHMENT
原始文献类型Article
引用统计
文献类型期刊论文
条目标识符https://kms.shanghaitech.edu.cn/handle/2MSLDSTB/120932
专题个人在本单位外知识产出
通讯作者Grewal, Shiv I. S.
作者单位1.NCI, Lab Biochem & Mol Biol, NIH, Bethesda, MD 20892 USA
2.Yokohama City Univ, Grad Sch Med, Dept Human Genet, Fukuura 3-9, Yokohama, Kanagawa 2360004, Japan
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Folco, H. Diego,Chalamcharla, Venkata R.,Sugiyama, Tomoyasu,et al. Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy[J]. NATURE,2017,543(7643):126+.
APA Folco, H. Diego.,Chalamcharla, Venkata R..,Sugiyama, Tomoyasu.,Thillainadesan, Gobi.,Zofall, Martin.,...&Grewal, Shiv I. S..(2017).Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.NATURE,543(7643),126+.
MLA Folco, H. Diego,et al."Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy".NATURE 543.7643(2017):126+.
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