Novel Single-Nucleotide Polymorphisms of SOHLH2 in Korean Patients with Premature Ovarian Failure
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
SOHLH2 is a novel germ cell-specific transcription factor that is crucial for folliculogenesis in the ovary and spermatogenesis in the testis. SOHLH2 represents a candidate gene for infertility with premature ovarian failure. We analyzed whether mutations in the SOHLH2 gene in 98 Korean women with premature ovarian failure. The sequence analysis identified six novel SNPs (c.431-41G>C, c.656A>T, c.1000+27C>T, c.1000+33G>T, c1258-106G>A, and c.2094+11T>C) from Korean patients with premature ovarian failure. The c.656A>T found in exon 7 results in change of an amino acid, tyrosine to phenylalanine. Functional mutations in SOHLH2 gene are rare in Korean women with premature ovarian failure.
Abstract
SOHLH2 is a novel germ cell-specific transcription factor that is crucial for folliculogenesis in the ovary and spermatogenesis in the testis. SOHLH2 represents a candidate gene for infertility with premature ovarian failure. We analyzed whether mutations in the SOHLH2 gene in 98 Korean women with premature ovarian failure. The sequence analysis identified six novel SNPs (c.431-41G>C, c.656A>T, c.1000+27C>T, c.1000+33G>T, c1258-106G>A, and c.2094+11T>C) from Korean patients with premature ovarian failure. The c.656A>T found in exon 7 results in change of an amino acid, tyrosine to phenylalanine. Functional mutations in SOHLH2 gene are rare in Korean women with premature ovarian failure.
참고문헌 (9)
- 최영석, "Sohlh2 is a germ cell-specific bHLH transcription factor", GENE EXPRESSION PATTERNS, 6(8), pp.1014~1018, ELSEVIER SCIENCE BV
- 최영석, "Germ Cell-Specific Transcriptional Regulator Sohlh2 Is Essential for Early Mouse Folliculogenesis and Oocyte-Specific Gene Expression", BIOLOGY OF REPRODUCTION, 79, pp.1176~1182, SOC STUDY REPRODUCTION
- Conway GS, "Premature ovarian failure", Br Med Bull, 56, pp.643~649 (2000)
- Goswami D, "Premature ovarian failure", Hum Reprod Update, 11, pp.391~410 (2005)
- Hao J, "Sohlh2 knockout mice are male-sterile because of degeneration of differentiating type A spermatogonia", Stem Cells, 26, pp.1587~1597 (2008)
- Matzuk MM, "The biology of infertility: research advances and clinical challenges", Nat Med, 14, pp.1197~1213 (2008)
- Simpson JL, "Ovarian differentiation and gonadal failure", Am J Med Genet, 89, pp.186~200 (1999)
- Swanson HI, "Specificity of DNA binding of the c-Myc", Max and ARNT, Nucleic Acids Res, pp.1999, 27[DOI]
- Toyoda S, "Sohlh2 affects differentiation of KIT positive oocytes and spermatogonia", Dev Biol, 325, pp.238~248 (2009)