論文

査読有り 国際誌
2021年3月

Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families

Pigment Cell & Melanoma Research
  • Yuta Araki
  • ,
  • Ken Okamura
  • ,
  • Toru Saito
  • ,
  • Kazuhiko Matsumoto
  • ,
  • Ken Natsuga
  • ,
  • Junko Nishimoto
  • ,
  • Yoko Funasaka
  • ,
  • Yaei Togawa
  • ,
  • Tamio Suzuki

34
2
開始ページ
174
終了ページ
178
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/pcmr.12930
出版者・発行元
Wiley

SASH1 has been reported as a causal gene of lentiginous phenotypes with and without heredity, including an autosomal dominant type characterized by lentigines predominantly on sun-exposed areas such as the face and limbs. Recently, cases of dyschromatosis with SASH1 mutations have been reported worldwide; however, only one case has been reported from Japan. Here, we analyzed six Japanese patients who characteristically showed many lentigines on sun-exposed areas, using next-generation sequencing. We identified five novel heterozygous mutations in SASH1 (p.I586M, p.S531Y, p.R644W, p.T525R, and p.S516I) in our patients and their families. The p.R644W substitution identified in two unrelated families was the first mutation located in the sterile alpha motif 1 (SAM1) domain. The degree and location of the lentigines were variable across individuals, even if they shared the same SASH1 mutation. All mutations were predicted to be deleterious by six different algorithms used to evaluate the functional impact of a variation. In addition, immunohistopathological findings and RNA sequencing results suggested that SASH1 mutations were associated with an increase in the number of melanocytes, acceleration of melanogenesis, and upregulated hair keratin expression.

リンク情報
DOI
https://doi.org/10.1111/pcmr.12930
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32981204
URL
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pcmr.12930
URL
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/pcmr.12930
Scopus
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85092153422&origin=inward
Scopus Citedby
https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85092153422&origin=inward
ID情報
  • DOI : 10.1111/pcmr.12930
  • ISSN : 1755-1471
  • eISSN : 1755-148X
  • PubMed ID : 32981204
  • SCOPUS ID : 85092153422

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