Genetic analysis of DACT1 in 100 Chinese Han women with Müllerian duct anomalies

Qiong Xing; Zuying Xu; Ying Zhu; Xi Wang; Jing Wang; Dawei Chen; Yuping Xu; Xiaojin He; Huifen Xiang; Binbin Wang; Yunxia Cao

doi:10.1016/j.rbmo.2016.01.003

Genetic analysis of DACT1 in 100 Chinese Han women with Müllerian duct anomalies

Reprod Biomed Online. 2016 Apr;32(4):420-6. doi: 10.1016/j.rbmo.2016.01.003. Epub 2016 Jan 25.

Authors

Qiong Xing¹, Zuying Xu¹, Ying Zhu¹, Xi Wang², Jing Wang², Dawei Chen¹, Yuping Xu¹, Xiaojin He¹, Huifen Xiang¹, Binbin Wang³, Yunxia Cao⁴

Affiliations

¹ Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Institute of Reproductive Genetics, Anhui Medical University, Hefei 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei 230022, China.
² National Research Institute for Family Planning, Beijing 100081, China.
³ National Research Institute for Family Planning, Beijing 100081, China. Electronic address: wbbahu@163.com.
⁴ Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; Institute of Reproductive Genetics, Anhui Medical University, Hefei 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei 230022, China. Electronic address: caoyunxia6@126.com.

PMID: 26856455
DOI: 10.1016/j.rbmo.2016.01.003

Abstract

Dapper antagonist of catenin-1 (DACT1) plays an important role in embryogenesis and organogenesis of the female reproductive tract in mouse models. The aim of this study was to investigate the association between DACT1 mutations and human Müllerian duct anomalies (MDA). One hundred clinically well-defined Chinese Han patients with MDA and 200 healthy controls were recruited in this study. All four exons coding for DACT1 were amplified and sequenced. A missense mutation (c.G1084A, p.V362M) was identified in a patient who had a didelphic uterus and was absent from the control group. This variant changed the hydrophilicity of the amino acid residue and was predicted to be deleterious to the structure and function of DACT1 protein. The data indicate that the p.V362M mutation of DACT1 may be an underlying cause of MDA.

Keywords: DACT1; Mutation; Müllerian duct anomalies; Single nucleotide polymorphisms.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adult
China
DNA Mutational Analysis
Female
Humans
Mullerian Ducts / abnormalities*
Mullerian Ducts / embryology
Mutation, Missense
Nuclear Proteins / genetics*
Wnt Signaling Pathway

Substances

Adaptor Proteins, Signal Transducing
DACT1 protein, human
Nuclear Proteins