Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 신재훈 | - |
dc.date.accessioned | 2018-02-28T07:32:02Z | - |
dc.date.available | 2018-02-28T07:32:02Z | - |
dc.date.issued | 2011-11 | - |
dc.identifier.citation | European Journal of Endocrinology, Nov2011, Vol. 165 Issue 5, P771-778 | en_US |
dc.identifier.issn | 0804-4643 | - |
dc.identifier.uri | http://www.eje-online.org/content/165/5/771.short | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/41302 | - |
dc.description.abstract | Objective: Steroidogenic acute regulatory (STAR) protein plays a crucial role in steroidogenesis, and mutations in the STAR gene cause congenital lipoid adrenal hyperplasia (CLAH). This study investigated the STAR mutation spectrum and functionally analyzed a novel STAR mutation in Korean patients with CLAH.Methods: Mutation analysis of STAR was carried out in 25 unrelated Korean CLAH patients. A region of STAR comprising exons 4-7 was cloned from human genomic DNA into an expression vector, followed by site-directed mutagenesis and transient expression in COS7 cells. The splicing pattern was analyzed by in vitro transcription, and each transcript was functionally characterized by measuring pregnenolone production in COS7 cells cotransfected with the cholesterol side chain cleavage system.Results: Mutation p.Q258X was identified in 46 of 50 alleles (92%); mutation c.653C>T was detected in two alleles (4%); and mutations p.R182H and c.745-6_810del were found in one allele (2%). Reverse transcriptase-PCR products amplified from a patient heterozygous for compound c.653C>T and c.745-6_810del mutation revealed multiple alternatively spliced mRNAs. In vitro expression analysis of a minigene consisting of exons 4-7 containing the c.653C>T yielded two transcripts in which exon 6 or exons 5 and 6 were skipped. The encoded proteins exhibited defective pregnenolone-producing ability. The c.745-6_810del mutation led to full and partial intron retention.Conclusions: p.Q258X is the most common STAR mutation in Korea. A previously reported c.653C>T variant was found to cause aberrant splicing at the mRNA level, resulting in perturbation of STAR function. The c.745-6_810del mutation also resulted in aberrant splicing. | en_US |
dc.description.sponsorship | This study was supported by a grant from the Ministry for Health, Welfare and Family Affairs, Republic of Korea (A080588-2). | en_US |
dc.language.iso | en | en_US |
dc.publisher | Bioscientifica LTD | en_US |
dc.subject | ACUTE REGULATORY PROTEIN | en_US |
dc.subject | CHAIN CLEAVAGE ENZYME | en_US |
dc.subject | HETEROZYGOUS MUTATION | en_US |
dc.subject | STEROIDOGENESIS | en_US |
dc.subject | MECHANISM | en_US |
dc.subject | INSUFFICIENCY | en_US |
dc.subject | P450SCC | en_US |
dc.title | High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia | en_US |
dc.type | Article | en_US |
dc.relation.no | 5 | - |
dc.relation.volume | 165 | - |
dc.identifier.doi | 10.1530/EJE-11-0597 | - |
dc.relation.page | 771-778 | - |
dc.relation.journal | EUROPEAN JOURNAL OF ENDOCRINOLOGY | - |
dc.contributor.googleauthor | Kim, Jae-Min | - |
dc.contributor.googleauthor | Choi, Jin-Ho | - |
dc.contributor.googleauthor | Lee, Jung Hyun | - |
dc.contributor.googleauthor | Kim, Gu-Hwan | - |
dc.contributor.googleauthor | Lee, Beom Hee | - |
dc.contributor.googleauthor | Kim, Hae Soon | - |
dc.contributor.googleauthor | Shin, Jeh-Hoon | - |
dc.contributor.googleauthor | Shin, Choong-Ho | - |
dc.contributor.googleauthor | Kim, Chan Jong | - |
dc.contributor.googleauthor | Yu, Jeesuk | - |
dc.contributor.googleauthor | 김재민 | - |
dc.contributor.googleauthor | 최진호 | - |
dc.contributor.googleauthor | 이정현 | - |
dc.contributor.googleauthor | 김구환 | - |
dc.contributor.googleauthor | 이범희 | - |
dc.contributor.googleauthor | 김해순 | - |
dc.contributor.googleauthor | 신제훈 | - |
dc.contributor.googleauthor | 신충호 | - |
dc.contributor.googleauthor | 김찬동 | - |
dc.contributor.googleauthor | 유지석 | - |
dc.relation.code | 2011203009 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | hjshin | - |
dc.identifier.researcherID | J-5526-2012 | - |
dc.identifier.orcid | https://orcid.org/0000-0003-0918-0565 | - |
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