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Mutations in SOHLH1 gene associate with nonobstructive azoospermia

DC Field Value Language
dc.contributor.author이옥희-
dc.date.accessioned2015-04-23T17:23:42Z-
dc.date.available2015-04-23T17:23:42Z-
dc.date.issued2010-
dc.identifier.issn1059-7794-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/102379-
dc.description.abstractIn a previous study, we found SOHLH1 (spermatogenesis and oogenesis-specific basic helix-loop-helix 1) as the first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation. SOHLH1 therefore represents an excellent candidate gene for testicular failure such as nonobstructive azoospermia (NOA). We analyzed whether there were mutations in the SOHLH1 gene in 96 Korean patients with NOA. The sequence analysis discovered three novel variations: one intronic variant (c.346-1G>A), and two nonsynonymous exonic variants (c.91T>C and c.529C>A) with known single nucleotide polymorphisms (SNPs), which included six intronic variants, two synonymous, and two nonsynonymous variants. We examined the consequences of mutations in SOHLH1 using in vivo and in vitro assays. Analysis of transcripts from minigenes carrying the c.346-1G>A revealed that splicing site variation leads to the partial deletion at a cryptic splicing site within exon 4. This deletion results in SOHLH1 with a truncated bHLH domain. Transient transfection assay showed that the SOHLH1 mutant with the truncated domain disrupted the transcriptional activity of KIT promoter, whereas two missense mutations harboring either p.Arg37Gln or p.Pro269Ser did not have a significant effect on its transactivation. Our findings indicate that a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis.-
dc.description.statementOfResponsibilityopen-
dc.format.extent788~793-
dc.relation.isPartOfHUMAN MUTATION-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHAzoospermia/genetics*-
dc.subject.MESHBase Sequence-
dc.subject.MESHBasic Helix-Loop-Helix Transcription Factors/genetics*-
dc.subject.MESHCell Line-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHExons/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGene Deletion-
dc.subject.MESHGenetic Predisposition to Disease*-
dc.subject.MESHHumans-
dc.subject.MESHIntrons/genetics-
dc.subject.MESHLuciferases/genetics-
dc.subject.MESHLuciferases/metabolism-
dc.subject.MESHMale-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMutation*-
dc.subject.MESHPedigree-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHRNA Splice Sites/genetics-
dc.subject.MESHSequence Homology, Amino Acid-
dc.subject.MESHTestis/metabolism-
dc.subject.MESHTestis/pathology-
dc.subject.MESHTransfection-
dc.titleMutations in SOHLH1 gene associate with nonobstructive azoospermia-
dc.typeArticle-
dc.contributor.collegeResearcher Institutes (부설 연구소)-
dc.contributor.departmentYonsei Integrative Research Institute for Cerebral & Cardiovascular Disease (뇌심혈관질환융합연구사업단)-
dc.contributor.googleauthorYoungsok Choi-
dc.contributor.googleauthorSanghyun Jeon-
dc.contributor.googleauthorMikyung Choi-
dc.contributor.googleauthorMin-ho Lee-
dc.contributor.googleauthorMiseon Park-
dc.contributor.googleauthorDong Ryul Lee-
dc.contributor.googleauthorKyu-Yeon Jun-
dc.contributor.googleauthorYoungjoo Kwon-
dc.contributor.googleauthorOk-Hee Lee-
dc.contributor.googleauthorSeung-Hun Song-
dc.contributor.googleauthorJi-Young Kim-
dc.contributor.googleauthorKyung-Ah Lee-
dc.contributor.googleauthorTae Ki Yoon-
dc.contributor.googleauthorAleksandar Rajkovic-
dc.contributor.googleauthorSung Han Shim-
dc.identifier.doi10.1002/humu.21264-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02970-
dc.relation.journalcodeJ01010-
dc.identifier.eissn1098-1004-
dc.identifier.pmid20506135-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1002/humu.21264/abstract-
dc.subject.keywordnonobstructive Azoospermia-
dc.subject.keywordNOA-
dc.subject.keywordSOHLH1-
dc.subject.keywordtestis-
dc.subject.keywordspermatogenesis-
dc.contributor.alternativeNameLee, Ok Hee-
dc.contributor.affiliatedAuthorLee, Ok Hee-
dc.citation.volume31-
dc.citation.number7-
dc.citation.startPage788-
dc.citation.endPage793-
dc.identifier.bibliographicCitationHUMAN MUTATION, Vol.31(7) : 788-793, 2010-
Appears in Collections:
1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers

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