title: Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  Clinical research center.
  
  
  METHODS
  Forty women with 46,XX spontaneous premature ovarian failure.
  
  
  METHODS
  None.
  
  
  METHODS
  Single-stranded conformational polymorphism analysis and DNA sequencing.
  
  
  RESULTS
  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%).
  
  
  CONCLUSIONS
  Mutations in the coding regions of the KITLG gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women.
authors.affiliation: Section on Women's Health Research, Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Emily S
authors.initials: ES
authors.lastname: Hui
authors.forename: Ekemini A
authors.initials: EA
authors.lastname: Udofa
authors.forename: Jackeline
authors.initials: J
authors.lastname: Soto
authors.forename: Vien H
authors.initials: VH
authors.lastname: Vanderhoof
authors.forename: Keith
authors.initials: K
authors.lastname: Zachman
authors.forename: Zhi-Bin
authors.initials: ZB
authors.lastname: Tong
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nelson
mesh_terms: D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000453:epidemiology* / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008396:Maryland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D019089:Stem Cell Factor / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D019089:Stem Cell Factor