PMID- 8051117
OWN - NLM
STAT- MEDLINE
DCOM- 19940906
LR  - 20210210
IS  - 0021-9258 (Print)
IS  - 0021-9258 (Linking)
VI  - 269
IP  - 32
DP  - 1994 Aug 12
TI  - Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) 
      chain and identification of intragenic polymorphisms.
PG  - 20256-62
AB  - Type VII collagen is the major, if not the exclusive, component of the anchoring 
      fibrils, attachment structures at the dermal-epidermal basement membrane zone. In 
      this study, we have isolated overlapping cDNA clones which correspond to 
      full-length human type VII collagen mRNA of approximately 9.2 kilobases. The 
      full-length cDNA sequence contains an 8,833 nucleotide open reading frame 
      encoding 2,944 amino acids. The deduced amino acid sequence revealed the presence 
      of a central collagenous domain flanked by a large NH2-terminal non-collagenous 
      (NC-1) domain which consists of submodules with homology to known adhesive 
      proteins, including nine fibronectin type III-like segments (FNIII), and a 
      smaller COOH-terminal non-collagenous (NC-2) domain. In addition, we report six 
      intragenic polymorphisms in the type VII collagen gene (COL7A1) which can be 
      detected by restriction enzyme digestion of polymerase chain reaction-amplified 
      segments. The complete cDNA sequence and polymorphisms in COL7A1 will facilitate 
      mutational analysis and prenatal diagnosis for patients with the dystrophic forms 
      of epidermolysis bullosa, in which mutations in COL7A1 have been demonstrated.
FAU - Christiano, A M
AU  - Christiano AM
AD  - Department of Dermatology, Jefferson Medical College, Thomas Jefferson 
      University, Philadelphia, Pennsylvania 19107.
FAU - Greenspan, D S
AU  - Greenspan DS
FAU - Lee, S
AU  - Lee S
FAU - Uitto, J
AU  - Uitto J
LA  - eng
SI  - GENBANK/L02870
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
GR  - R01-GM46846/GM/NIGMS NIH HHS/United States
GR  - T32-AR07561/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Biol Chem
JT  - The Journal of biological chemistry
JID - 2985121R
RN  - 0 (DNA, Complementary)
RN  - 9007-34-5 (Collagen)
SB  - IM
GS  - COL7A1
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cloning, Molecular
MH  - Collagen/*genetics
MH  - DNA, Complementary
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Polymorphism, Genetic
EDAT- 1994/08/12 00:00
MHDA- 1994/08/12 00:01
CRDT- 1994/08/12 00:00
PHST- 1994/08/12 00:00 [pubmed]
PHST- 1994/08/12 00:01 [medline]
PHST- 1994/08/12 00:00 [entrez]
AID - S0021-9258(17)31984-1 [pii]
PST - ppublish
SO  - J Biol Chem. 1994 Aug 12;269(32):20256-62.