• Title/Summary/Keyword: SOHLH2

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Novel Single-Nucleotide Polymorphisms of SOHLH2 in Korean Patients with Premature Ovarian Failure

  • Jeong, Ji-Hye;Choi, Mi-Kyung;Won, Hyung-Jae;Song, Seung-Hoon;Kim, You-Shin;Lyu, Sang-Woo;Seok, Hyun-Ha;Park, Mi-Ree;Kim, Nam-Keun;Yoon, Tae-Ki;Shim, Sung-Han;Choi, Young-Sok
    • Development and Reproduction
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    • v.15 no.4
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    • pp.309-313
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    • 2011
  • 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.

Transcription factors in the maintenance and survival of primordial follicles

  • Lim, Eun-Jin;Choi, Youngsok
    • Clinical and Experimental Reproductive Medicine
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    • v.39 no.4
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    • pp.127-131
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    • 2012
  • Primordial follicles are formed prenatally in mammalian ovaries, and at birth they are fated to be activated to primary follicles, to be dormant, or to die. During the early stage of folliclulogenesis, the oocyte undergoes dynamic alterations in expression of numerous genes, which are regulated by transcription factors. Several germ-cell specific transcriptional regulators are critical for formation and maintenance of follicles. These transcriptional regulators include: Figla, Lhx8, Nobox, Sohlh1, and Sohlh2. A subset of these transcriptional regulators is mutated in women with ovarian insufficiency and infertility. Establishment of this oocyte pool is essential for fertility. This review focuses on these transcriptional regulators of female primordial follicles.