지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 471 - 478 (8page)
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초록· 키워드
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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 effects 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 affected cases. In a replication study, another homozygous missense mutation in GPNMB, pIle174Met (c.522 C>G), was carried by the affected 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 influence GPNMB stability, as revealed by protein modeling.
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참고문헌 (25)
참고문헌 신청
Adzhubei IA / 2010 / A method and server for predicting damaging missense mutations / Nat Methods 7:248~249
Anderson MG / 2002 / Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice / Nat Genet 30:81~85
Arita K / 2008 / Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis / Am J Hum Genet 82:73~80
Bourke JF / 1992 / Difuse primary cutaneous amyloidosis / Br J Dermatol 127:641~644
Ceccherini I / 1994 / Identifcation of the Cys634–>Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis / J Endocrinol Invest 17:201~204
Anderson MG / 2002 / Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice / Nat Genet 30:81~85
Arita K / 2008 / Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis / Am J Hum Genet 82:73~80
Bourke JF / 1992 / Difuse primary cutaneous amyloidosis / Br J Dermatol 127:641~644
Ceccherini I / 1994 / Identifcation of the Cys634–>Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis / J Endocrinol Invest 17:201~204
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