期刊
NATURE GENETICS
卷 43, 期 6, 页码 527-529出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.822
关键词
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资金
- Michael and Betty Kadoorie Cancer Genetics Research Programme
- NHS
- Cancer Research UK [C8620_A9024, C8620_A8857]
- Institute of Cancer Research (UK)
- Medical Research Council [MC_U127561093] Funding Source: researchfish
- MRC [MC_U127561093] Funding Source: UKRI
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.
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