2003年7月
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
- 巻
- 73
- 号
- 1
- 開始ページ
- 174
- 終了ページ
- 187
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1086/376609
- 出版者・発行元
- UNIV CHICAGO PRESS
Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene ( renamed "KIND1" [ encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.
- リンク情報
- ID情報
-
- DOI : 10.1086/376609
- ISSN : 0002-9297
- Web of Science ID : WOS:000183904900015