Identification of a distinct type IV collagen. alpha. chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
- Univ. of Oulu (Finland)
- New York State Dept. of Health, Buffalo, NY (USA)
The authors have identified and extensively characterized a type IV collagen {alpha} chain, referred to as {alpha}5(IV). Four overlapping cDNA clones isolated contain an open reading frame for 543 amino acid residues of the carboxyl-terminal end of a collagenous domain, a 229-residue carboxyl-terminal noncollagenous domain, and 1201 base pairs coding for a 3{prime} untranslated region. The collagenous Gly-Xaa-Yaa repeat sequence has five imperfections that coincide with those in the corresponding region of the {alpha}1(IV) chain. The noncollagenous domain has 12 conserved cysteine residues and 83% and 63% sequence identity with the noncollagenous domains of the {alpha}1(IV) and {alpha}2(IV) chains, respectively. The {alpha}5(IV) chain has less sequence identity with the putative bovine {alpha}3(IV) and {alpha}4(IV) chains. Antiserum against an {alpha}5(IV) synthetic peptide stained a polypeptide chain of about 185 kDa by immunoblot analysis and immunolocalization of the chain in human kidney was almost completely restricted to the glomerulus. The gene was assigned to the Xq22 locus by somatic cell hybrids and in situ hybridization. This may be identical or close to the locus of the X chromosome-linked Alport syndrome that is believed to be a type IV collagen disease.
- OSTI ID:
- 6171045
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 87:4; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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COLLAGEN
AMINO ACID SEQUENCE
HEREDITARY DISEASES
PATHOGENESIS
PEPTIDES
TISSUE DISTRIBUTION
RECOMBINANT DNA
DNA SEQUENCING
DNA HYBRIDIZATION
FLUORESCENCE
GENES
KIDNEYS
PHOSPHORUS 32
X CHROMOSOME
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
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DISEASES
DISTRIBUTION
DNA
HETEROCHROMOSOMES
HYBRIDIZATION
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LIGHT NUCLEI
LUMINESCENCE
MOLECULAR STRUCTURE
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
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PHOSPHORUS ISOTOPES
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SCLEROPROTEINS
STRUCTURAL CHEMICAL ANALYSIS
550401* - Genetics- Tracer Techniques