COL7A1

Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive), also known as COL7A1, is a human gene.

PBB_Summary
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summary_text = This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita. [cite web | title =COL7A1 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1294| accessdate = |work=NCBI Entrez Gene database]

COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately 31,000 base pairs in size and is remarkable for the extreme fragmentation of its coding sequence into 118 exons. [cite journal | author=Christiano AM, Hoffman GG, Chung-Honet LC, "et al." |title=Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. |journal=Genomics |volume=21 |issue= 1 |pages= 169–79 |year=1994 |pmid=8088784 |doi=10.1006/geno.1994.1239] [cite web | title =COL7A1 genomic sequence| url = http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=495865| accessdate = |work=NCBI Entrez Nucleotide database] COL7A1 is transcribed into an mRNA of 9,287 base pairs. [cite web | title = COL7A1 mRNA sequence| url = http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=987124 |work=NCBI Entrez Nucleotide database ] In the skin, the type VII collagen protein is synthesized by keratinocytes and dermal fibroblasts. [OMIM|120120|COL7A1]

The inherited disease, dystrophic epidermolysis bullosa, is caused by recessive or dominant mutations in COL7A1. [cite journal | author=Dang N, Murrell DF |title=Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. |journal=Exp. Dermatol. |volume=17 |issue=7 |pages=553–68 |year=2008 |pmid= 18558993 |doi= ]

The symbol for the orthologous gene in the mouse is Col7a1.

ee also

* Collagen

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mecklenbeck S, Hammami-Hauasli N, Höpfner B, "et al." |title=Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 398–400 |year= 1999 |pmid= 10084325 |doi= 10.1046/j.1523-1747.1999.00518.x
*cite journal | author=Dang N, Klingberg S, Marr P, Murrell DF |title=Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. |journal=J. Dermatol. Sci. |volume=46 |issue= 3 |pages= 169–78 |year= 2007 |pmid= 17425959 |doi= 10.1016/j.jdermsci.2007.02.006
*cite journal | author=Christiano AM, Rosenbaum LM, Chung-Honet LC, "et al." |title=The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor. |journal=Hum. Mol. Genet. |volume=1 |issue= 7 |pages= 475–81 |year= 1993 |pmid= 1307247 |doi=
*cite journal | author=Gammon WR, Abernethy ML, Padilla KM, "et al." |title=Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix. |journal=J. Invest. Dermatol. |volume=99 |issue= 6 |pages= 691–6 |year= 1993 |pmid= 1469284 |doi=
*cite journal | author=Tanaka T, Takahashi K, Furukawa F, Imamura S |title=Molecular cloning and characterization of type VII collagen cDNA. |journal=Biochem. Biophys. Res. Commun. |volume=183 |issue= 3 |pages= 958–63 |year= 1992 |pmid= 1567409 |doi=
*cite journal | author=Parente MG, Chung LC, Ryynänen J, "et al." |title=Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 16 |pages= 6931–5 |year= 1991 |pmid= 1871109 |doi=
*cite journal | author=Seltzer JL, Eisen AZ, Bauer EA, "et al." |title=Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin. |journal=J. Biol. Chem. |volume=264 |issue= 7 |pages= 3822–6 |year= 1989 |pmid= 2537292 |doi=
*cite journal | author=Fine JD, Johnson L, Wright T |title=Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. |journal=Archives of dermatology |volume=125 |issue= 5 |pages= 633–8 |year= 1989 |pmid= 2653224 |doi=
*cite journal | author=Bart BJ, Gorlin RJ, Anderson VE, Lynch FW |title=Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. |journal=Archives of dermatology |volume=93 |issue= 3 |pages= 296–304 |year= 1966 |pmid= 5910871 |doi=
*cite journal | author=Tanaka T, Furukawa F, Imamura S |title=Epitope mapping for epidermolysis bullosa acquisita autoantibody by molecularly cloned cDNA for type VII collagen. |journal=J. Invest. Dermatol. |volume=102 |issue= 5 |pages= 706–9 |year= 1994 |pmid= 7513737 |doi=
*cite journal | author=Christiano AM, Morricone A, Paradisi M, "et al." |title=A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. |journal=J. Invest. Dermatol. |volume=104 |issue= 3 |pages= 438–40 |year= 1995 |pmid= 7861014 |doi=
*cite journal | author=Christiano AM, Suga Y, Greenspan DS, "et al." |title=Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. |journal=J. Clin. Invest. |volume=95 |issue= 3 |pages= 1328–34 |year= 1995 |pmid= 7883979 |doi=
*cite journal | author=Lapiere JC, Chen JD, Iwasaki T, "et al." |title=Type VII collagen specifically binds fibronectin via a unique subdomain within the collagenous triple helix. |journal=J. Invest. Dermatol. |volume=103 |issue= 5 |pages= 637–41 |year= 1994 |pmid= 7963647 |doi=
*cite journal | author=Christiano AM, Greenspan DS, Lee S, Uitto J |title=Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. |journal=J. Biol. Chem. |volume=269 |issue= 32 |pages= 20256–62 |year= 1994 |pmid= 8051117 |doi=
*cite journal | author=Christiano AM, Ryynänen M, Uitto J |title=Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 9 |pages= 3549–53 |year= 1994 |pmid= 8170945 |doi=
*cite journal | author=Greenspan DS, Byers MG, Eddy RL, "et al." |title=Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=62 |issue= 1 |pages= 35–6 |year= 1993 |pmid= 8422754 |doi=
*cite journal | author=Greenspan DS |title=The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene. |journal=Hum. Mol. Genet. |volume=2 |issue= 3 |pages= 273–8 |year= 1993 |pmid= 8499916 |doi=
*cite journal | author=Christiano AM, Greenspan DS, Hoffman GG, "et al." |title=A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. |journal=Nat. Genet. |volume=4 |issue= 1 |pages= 62–6 |year= 1993 |pmid= 8513326 |doi= 10.1038/ng0593-62
*cite journal | author=Christiano AM, Lee JY, Chen WJ, "et al." |title=Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. |journal=Hum. Mol. Genet. |volume=4 |issue= 9 |pages= 1579–83 |year= 1996 |pmid= 8541842 |doi=

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