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MHR: Basic science of reprod. Medicine

Year: 2009  |  Volume: 15  |  Issue: 9  |  Page No.: 557 - 562

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure

B Wang, L Li, F Ni, J Song, J Wang, Y Mu, X Ma and Y. Cao

Abstract

Pluripotency associated transcription factor, SAL-Like 4 (SALL4), might play an important role in conferring totipotency on oocytes. In the present study, we screened SALL4 coding regions for mutations in 100 Han Chinese women with non-syndromic ovarian failure and discovered two novel non-synonymous variants in the SALL4 gene: c.541G>A (p.Val181Met) and c.2449A>G. (p.Thr817Ala). The former variant was located in an evolutionary conserved region of SALL4 protein and might affect its function. This is the first report to suggest that SALL4 might be a potential candidate gene of premature ovarian failure.

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