Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00790 (PGA)
 2,475 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The alpha2 chain of canine type I collagen was characterized with both sequence analysis of COL1A2 cDNA and chemical analysis of alpha2(I) chains. The complete sequence of canine COL1A2 cDNA was determined from reverse-transcribed and polymerase chain reaction-amplified total RNA from cultured skin fibroblasts. Pepsin-digested and cyanogen bromide-digested type I collagen peptides were analyzed with chromatography, gel electrophoresis, and mass spectrometry. Identity between the sequences of canine and human COL1A2 cDNA was 90.9%, predicting conservation of the 3 cysteine residues required for C-propeptide registration and of cleavage sites for signal peptidase, procollagen N-proteinase, vertebrate collagenase, and procollagen C-proteinase. Conservation of all 50 lysine residues was also predicted, including preservation of the 1:2 asymmetry in the X:Y distribution of the 31 lysine residues in the alpha2(I) triple helix. The human and canine sequences differed in the location of Y-position proline residues and the presence of two unique canine cyanogen bromide peptides, alpha2 CB3b and alpha2 CB3c,5. Knowledge of the conserved and unique features of canine COL1A2 will be valuable for analysis of the expression, synthesis, and structure of type I collagen as well as studies of canine osteogenesis imperfecta.
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PMID:Sequence of canine COL1A2 cDNA: nucleotide substitutions affecting the cyanogen bromide peptide map of the alpha 2(I) chain. 972 Nov 84

The sequence of canine COL1A1 cDNA was determined from four overlapping COL1A1 RT-PCR products generated from canine fibroblast RNA. In the translated region, nucleotide identity between canine and human COL1A1 cDNA was 93.2%, although the canine sequence lacked nucleotides 204 to 215 in the region coding for the N-propeptide. Amino acid identity was 97.7%. Total RNA and type I collagen were collected from cultured skin fibroblasts of a 12-week-old male golden retriever with pathologic fractures suggestive of osteogenesis imperfecta (OI) and dentinogenesis imperfecta. Sequential, overlapping approximately 1,000-bp fragments of COL1A1 and COL1A2 cDNA were each amplified by RT-PCR using primers containing 5' T7 polymerase sites. These PCR products were transcribed with T7 RNA polymerase, hybridized into RNA duplexes, and cleaved at mismatch sites with RNase. The proband had an unique cleavage pattern for the fragment of COL1A1 mRNA spanning nucleotides 709 to 1,531. Sequence analysis identified a G to C point mutation for nucleotide 1,276, predicting a codon change from glycine (GGA) to alanine (GCA) for amino acid 208. This change disrupts the normal Gly-X-Y pattern of the collagen triple helix. Restriction enzyme digestion of the RT-PCR product was consistent with a heterozygous COL1A1 mutation. Type I collagen was labeled with 3H-proline, salt precipitated, and analyzed by SDS-PAGE. Pepsin digested alpha chains were over-hydroxylated, and procollagen processing was delayed. Thus, canine and human OI appear homologous in terms of clinical presentation, etiology, and pathogenesis.
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PMID:Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. 1114 34