Linked Life Data

16557343

Source:http://linkedlifedata.com/resource/pubmed/id/16557343

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2006-6-5
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
418-23
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
pubmed:affiliation
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, 060-8638, Sapporo, Japan. smartdai@med.hokudai.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't