@misc{oai:niigata-u.repo.nii.ac.jp:00005847,
 author = {Hayashi, Ryota},
 month = {Mar},
 note = {BACKGROUND:Woolly hair (WH) is a hair shaft anomaly characterized by tightly-curled hair and is frequently associated with hypotrichosis. Non-syndromic forms of WH can show either autosomal dominant or recessive inheritance. The autosomal recessive form of WH (ARWH) is caused by mutations in either lipase H (LIPH) or lysophosphatidic acid receptor 6 (LPAR6) gene, encoding an LPA-producing enzyme PA-PLA1α and an LPA receptor LPA6, respectively. OBJECTIVE:To define the molecular basis of ARWH/hypotrichosis in a Japanese family.\nMETHODS:We performed mutational analysis of candidate genes and a series of expression and in vitro functional analyses, which we improved in this study, to determine the consequences resulting from the mutations identified in the family.\nRESULTS:Novel compound heterozygous LPAR6 mutations were identified in the patient. One was a nonsense mutation c.756T>A (p.Tyr252*); the other was a large insertion mutation within the promoter region of LPAR6. Expression studies detected LPAR6 mRNA only from the c.756T>A allele in the patient's hair follicles, suggesting that the insertion in the other allele disrupted the LPAR6 promoter and thus led to a failure of transcription. Furthermore, an improved LPA6 functional assay developed in this study demonstrated aberrant expression and a subsequent loss of function of the p.Tyr252*-mutant protein. CONCLUSION:Through establishing a useful assay system for LPA6, our results further underscore the crucial roles of LPAR6 in hair follicle development and hair growth in humans at molecular levels., 学位の種類: 博士（医学）. 報告番号: 甲第4259号. 学位記番号: 新大院博（医）甲第737号. 学位授与年月日: 平成29年3月23日, Journal of Dermatological Science78(3) 197–205, 新大院博（医）甲第737号},
 title = {Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.},
 year = {2017}
}