title: Genetic analysis of DACT1 in 100 Chinese Han women with Müllerian duct anomalies.
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.
authors: 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.
authors: Qiong
authors: Q
authors: Xing
authors: 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.
authors: Zuying
authors: Z
authors: Xu
authors: 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.
authors: Ying
authors: Y
authors: Zhu
authors: National Research Institute for Family Planning, Beijing 100081, China.
authors: Xi
authors: X
authors: Wang
authors: National Research Institute for Family Planning, Beijing 100081, China.
authors: Jing
authors: J
authors: Wang
authors: 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.
authors: Dawei
authors: D
authors: Chen
authors: 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.
authors: Yuping
authors: Y
authors: Xu
authors: 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.
authors: Xiaojin
authors: X
authors: He
authors: 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.
authors: Huifen
authors: H
authors: Xiang
authors: National Research Institute for Family Planning, Beijing 100081, China. Electronic address: wbbahu@163.com.
authors: Binbin
authors: B
authors: Wang
authors: 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.
authors: Yunxia
authors: Y
authors: Cao
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000196:embryology; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D060449:Wnt Signaling Pathway
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C491683:DACT1 protein, human; D009687:Nuclear Proteins
keywords: DACT1; Mutation; Müllerian duct anomalies; Single nucleotide polymorphisms