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CEP57 基因突变导致马赛克变异非整倍体综合征。

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

机构信息

Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

出版信息

Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8.

DOI:10.1038/ng.822
PMID:21552266
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3508359/
Abstract

Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.

摘要

使用外显子组测序和一种侧重于功能丧失变异的变异优先级策略，我们确定了双等位基因、功能丧失的 CEP57 突变是构成性嵌合体非整倍体的原因。CEP57 是一种中心体蛋白，参与微管的起始和稳定。我们的研究结果表明，CEP57 的这些和/或其他功能对于在细胞分裂过程中维持正确的染色体数目至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e2c/3508359/be97731ab2d8/emss-35167-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e2c/3508359/be97731ab2d8/emss-35167-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e2c/3508359/be97731ab2d8/emss-35167-f0001.jpg

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