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Mol. Hum. Reprod. Advance Access originally published online on July 6, 2009
Molecular Human Reproduction 2009 15(9):557-562; doi:10.1093/molehr/gap046
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© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Binbin Wang1,2,3,*, Lin Li4,*, Feng Ni1, Junjie Song4, Jing Wang2,3, Yuan Mu2,3, Xu Ma2,3,5 and Yunxia Cao1,6

1 Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China 2 National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing 100081, China 3 Graduate School, Peking Union Medical College, Beijing, China 4 College of Biological Sciences, China Agricultural University, Beijing 100094, China 5 World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, China

6 Correspondence address. Tel: +86-551-2922071; Fax: +86-551-2922071; E-mail: caoyunxia6{at}126.com

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.

Key words: premature ovarian failure/SAL-Like 4/variant

* These authors contributed equally to the work.

Submitted on March 20, 2009; resubmitted on June 11, 2009; accepted on June 16, 2009.


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