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Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment.
Sung, Se Ra; Song, Seung Hun; Kang, Kyung Min; Park, Ji Eun; Nam, Yeo Jung; Shin, Yun-Jeong; Cha, Dong Hyun; Seo, Ju Tae; Yoon, Tae Ki; Shim, Sung Han.
Afiliação
  • Sung SR; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.
  • Song SH; Department of Urology, CHA Gangnam Medical Center, Seoul, South Korea.
  • Kang KM; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.
  • Park JE; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.
  • Nam YJ; Department of Biomedical Science, College of Life Science, CHA University, Seoul, South Korea.
  • Shin YJ; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.
  • Cha DH; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, Seoul, South Korea.
  • Seo JT; Department of Urology, Cheil General Hospital, Seoul, South Korea.
  • Yoon TK; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, Seoul, South Korea.
  • Shim SH; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea. shshim@cha.ac.kr.
BMC Med Genet ; 18(1): 47, 2017 05 02.
Article em En | MEDLINE | ID: mdl-28464846
BACKGROUND: Egr4 is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of Egr4 blocks spermatogenesis, significantly reducing the number of spermatozoa that are produced. In this study, we examined whether EGR4 variants are present in Korean men with impaired spermatogenesis. METHODS: A total 170 Korean men with impaired spermatogenesis and 272 normal controls were screened. The coding regions including exon-intron boundaries of EGR4 were sequenced by PCR-direct sequencing method. RESULTS: We identified eight sequence variations in the coding region and 3'-UTR regions of the EGR4 gene. Four were nonsynonymous variants (rs771189047, rs561568849, rs763487015, and rs546250227), three were synonymous variants (rs115948271, rs528939702, and rs7558708), and one variant (rs2229294) was localized in the 3'-UTR. Three nonsynonymous variants [c.65_66InsG (p. Cys23Leufs*37), c.236C > T (p. Pro79Leu), c.1294G > T (p. Val432Leu)] and one synonymous variant [c.1230G > A (p. Thr410)] were not detected in controls. To evaluate the pathogenic effects of nonsynonymous variants, we used seven prediction methods. The c.214C > A (p. Arg72Ser) and c.236C > T (p. Pro79Leu) variants were predicted as "damaging" by SIFT and SNAP2. The c.65_66insG (p. Cys23Leufs*37) variants were predicted as "disease causing" by Mutation Taster, SNPs &GO and SNAP2. The c.867C > G (p. Leu289) variants were predicted as "disease causing" only by Mutation Taster. CONCLUSION: To date, this study is the first to screen the EGR4 gene in relation to male infertility. However, our findings did not clearly explain how nonsynonymous EGR4 variations affect spermatogenesis. Therefore, further studies are required to validate the functional impact of EGR4 variations on spermatogenesis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espermatogênese / Fatores de Transcrição de Resposta de Crescimento Precoce / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espermatogênese / Fatores de Transcrição de Resposta de Crescimento Precoce / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article