title: Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
abstract: We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Ertug
authors.initials: E
authors.lastname: Kovanci
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Rajkovic
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D055430:Bone Morphogenetic Protein 15; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D055429:Growth Differentiation Factor 9; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: C525901:BMP15 protein, human; D055430:Bone Morphogenetic Protein 15; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9; D036341:Intercellular Signaling Peptides and Proteins; D013912:Threonine; D000409:Alanine