COL7A1 mutation G2037E causes epidermal retention of type VII collagen

Daisuke Sawamura, Kazuko Sato-Matsumura, Satoko Shibata, Akari Tashiro, Masutaka Furue, Maki Goto, Kaori Sakai, Masashi Akiyama, Hideki Nakamura, Hiroshi Shimizu

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

COL7A1 glycine substitution (GS) mutations result in dominant and recessive dystrophic epidermolysis bullosa (DDEB and RDEB). Here, we report a DDEB family in which retention of type VII collagen by epidermal keratinocytes was observed for a female proband. Mutational analysis detected a GS mutation, G2037E, in the proband and her affected father. To demonstrate direct association of G2037E and type VII collagen retention we introduced this mutated COL7A1 gene into cultured keratinocytes using retroviral methods. This mutation was dominant, so we transferred a 1:1 mixture of wild-type (unaffected) and G2037E-mutated COL7A1, together, in addition to the unaffected gene or the mutated gene alone. The increase in type VII collagen cytoplasmic staining in the G2037E/wild transfectant cell samples was compared with that for control/wild-type cells. Intracellular collagen VII staining in the G2037E (alone)-transfected cells was even stronger than for the G2037E/wild transfection sample. These results indicate that the G2037E COL7A1 mutation leads to increased epidermal retention of type VII collagen in vivo, and also suggests that homozygotes carrying this dominant GS mutation may have more severe phenotypes than heterozygotes. This study furthers our understanding of GS COL7A1 mutations in DEB.

Original languageEnglish
Pages (from-to)418-423
Number of pages6
JournalJournal of Human Genetics
Volume51
Issue number5
DOIs
Publication statusPublished - May 1 2006

Fingerprint

Collagen Type VII
Glycine
Mutation
Keratinocytes
Epidermolysis Bullosa Dystrophica
Staining and Labeling
Genes
Homozygote
Heterozygote
Fathers
Transfection
Collagen
Phenotype

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Sawamura, D., Sato-Matsumura, K., Shibata, S., Tashiro, A., Furue, M., Goto, M., ... Shimizu, H. (2006). COL7A1 mutation G2037E causes epidermal retention of type VII collagen. Journal of Human Genetics, 51(5), 418-423. https://doi.org/10.1007/s10038-006-0378-5

COL7A1 mutation G2037E causes epidermal retention of type VII collagen. / Sawamura, Daisuke; Sato-Matsumura, Kazuko; Shibata, Satoko; Tashiro, Akari; Furue, Masutaka; Goto, Maki; Sakai, Kaori; Akiyama, Masashi; Nakamura, Hideki; Shimizu, Hiroshi.

In: Journal of Human Genetics, Vol. 51, No. 5, 01.05.2006, p. 418-423.

Research output: Contribution to journalArticle

Sawamura, D, Sato-Matsumura, K, Shibata, S, Tashiro, A, Furue, M, Goto, M, Sakai, K, Akiyama, M, Nakamura, H & Shimizu, H 2006, 'COL7A1 mutation G2037E causes epidermal retention of type VII collagen', Journal of Human Genetics, vol. 51, no. 5, pp. 418-423. https://doi.org/10.1007/s10038-006-0378-5
Sawamura, Daisuke ; Sato-Matsumura, Kazuko ; Shibata, Satoko ; Tashiro, Akari ; Furue, Masutaka ; Goto, Maki ; Sakai, Kaori ; Akiyama, Masashi ; Nakamura, Hideki ; Shimizu, Hiroshi. / COL7A1 mutation G2037E causes epidermal retention of type VII collagen. In: Journal of Human Genetics. 2006 ; Vol. 51, No. 5. pp. 418-423.
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