title: Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
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.
authors: Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
authors: Binbin
authors: B
authors: Wang
authors: Lin
authors: L
authors: Li
authors: Feng
authors: F
authors: Ni
authors: Junjie
authors: J
authors: Song
authors: Jing
authors: J
authors: Wang
authors: Yuan
authors: Y
authors: Mu
authors: Xu
authors: X
authors: Ma
authors: Yunxia
authors: Y
authors: Cao
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C472575:SALL4 protein, human; D014157:Transcription Factors