Molecular biology and pathology of type VII collagen.
Type VII collagen is a genetically distinct member of the collagen family of proteins. Type VII collagen has been shown to be the major component of anchoring fibrils, attachment complexes which secure the cutaneous basement membrane of the skin to the underlying dermis. Understanding of the structure of type VII collagen has been advanced by recent cloning of the corresponding gene. Chromosomal mapping of the gene to the short arm of chromosome 3 and identification of intragenic polymorphic markers have allowed demonstration of strong genetic linkage between the type VII collagen locus and the dystrophic forms of EB (epidermolysis bullosa). This overview summarizes the progress made in the molecular genetics of type VII collagen.
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.
J
J
Uitto
L C
LC
Chung-Honet
A M
AM
Christiano
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018076:DNA, Complementary / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015394:Molecular Structure; D010375:Pedigree
D018076:DNA, Complementary; D003094:Collagen