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- 저자 : Musharraf Jelani (검색결과 2 건)
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Obaid Ur Rahman,Jeena Kim,Caroline Mahon,Musharraf Jelani,강창수 한국유전학회 2021 Genes & Genomics Vol.43 No.5
Background Amyloidosis cutis dyschromica (ACD) is a rare variant of cutaneous amyloidosis. This disorder often clusters in families, and it has been suggested that genetic factors might be involved in its development. Objective To identify the genetic causes of ACD, we recruited a consanguineous Pakistani family with multiple cases of ACD that display a recessive mode of inheritance. Methods We performed whole-exome sequencing of samples from 7 members of this family, followed by bioinformatic and in silico analyses to identify the causative variant. For the replication study, we recruited a British family with Pakistani ancestry, and sequenced all exons of glycoprotein non-metastatic melanoma protein b (GPNMB) to identify mutations. We also investigated efects of the mutations on the stability of the GPNMB protein using the I-TASSER three-dimensional modeling tool. Results We found a novel homozygous mutation, p.Gly363Val (c.1088 G>T), in GPNMB in all afected cases. In a replication study, another homozygous missense mutation in GPNMB, pIle174Met (c.522 C>G), was carried by the afected son. The two mutations were not observed in our in-house data set comprising 217 healthy Pakistani individuals or in The Genome Aggregation Database. Our structural modeling of GPNMB suggested that p.Gly363Val enhanced its stability, whereas p.Ile174Met caused instability. Conclusions This study reports two novel missense mutations in two Pakistani families that cause ACD. The mutations appear to infuence GPNMB stability, as revealed by protein modeling.
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Muhammad Ismail Khan,최소연,Muhammad Zahid,Habib Ahmad,Roshan Ali,Musharraf Jelani,강창수 한국유전학회 2018 Genes & Genomics Vol.40 No.7
Palmoplantar keratoderma (PPK) is a rare group of excessive skin disorder characterized by thickness over the palms and soles. The striate palmoplantar keratoderma (PPKS) is a form in which hyperkeratotic lesions are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. Dominantly inherited mutations in genes including desmoglein 1, desmoplakin and keratin 1 have been suggested as genetic causes of PPKS. In this study, we investigated a three-generation Pakistani family segregating PPKS phenotype in autosomal dominant fashion to identify genetic cause in this family. We have performed whole-exome and Sanger sequencing followed by in silico bioinformatics analysis to pinpoint candidate mutation associated with PPK. Revealed a novel heterozygous mutation (NM_020882.2, COL20A1 c. 392C > G; p.Ser131Cys) in the loop region close to fibronectin type III-1 domain of the c ollagen 20 α1. This variant was not found in our in-house 219 ethnically matched Pakistani unaffected controls and showed minor allele frequency of 3.4 × 10−5 in Exome Aggregation Consortium database containing exome data of 59,464 worldwide individuals. It was assigned as “pathogenic” by in silico prediction tools. Previously, association of mutation in the COL14A1, one of the paralogous gene of COL20A1, with PPK was reported in the study with a Chinese family. Our study proposes COL20A1 gene as another potential candidate gene for PPKS which expand the spectrum of collagen proteins in the pathogenicity of PPK.
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