Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure

Fertility and Sterility
Emily S HuiLawrence M Nelson

Abstract

To investigate mutations in the human KIT ligand gene (KITLG) gene as a mechanism of 46,XX spontaneous premature ovarian failure. The human KIT ligand gene, known also as human stem cell factor, is the ligand of the c-kit transmembrane tyrosine kinase receptor (KIT). This ligand-receptor interaction is known to play important roles in mouse germ cell migration and proliferation. Cross-sectional study. Clinical research center. Forty women with 46,XX spontaneous premature ovarian failure. None. Single-stranded conformational polymorphism analysis and DNA sequencing. We found one nucleotide change of the KITLG coding region (811G-->T) that led to an alteration of the amino acid composition of the KITLG protein in one Caucasian patient (Asp210Tyr). However, we found the same alteration in two normal control Caucasian samples. Three nucleotide substitutions were found in the noncoding exon of KITLG (exon 10). We also identified two intronic polymorphisms. Thus, we did not identify a single significant mutation in the coding region of the KITLG gene in any of 40 patients (upper 95% confidence limit is 7.2%). Mutations in the coding regions of the KITLG gene appear not to be a common cause of 46,XX spontaneous premature ovarian failu...Continue Reading

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Citations

Nov 21, 2012·PloS One·Ivan P GorlovChristopher Amos
Oct 9, 2013·Seminars in Reproductive Medicine·Michelle A Wood, Aleksandar Rajkovic
Aug 6, 2015·Human Reproduction Update·Yingying QinZi-Jiang Chen
Jan 2, 2008·European Journal of Endocrinology·Béatrice Mandon-PépinMarc Fellous
Mar 17, 2020·Current Pharmaceutical Design·Michail PargianasIoannis P Kosmas
May 27, 2010·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Arif Kokcu
Jul 13, 2007·Current Opinion in Obstetrics & Gynecology

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