High impact information on COL8A1

• METHODS: DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected members of 15 unrelated families with two or more members with late-onset FECD [1].
• We assessed the associations of the C807T and Glu505Lys variants of the glycoprotein Ia (alpha(2) integrin) subunit of the platelet/endothelial collagen receptor and risk of retinopathy in a population-based survey of 288 diabetic patients in one Swedish community [2].
• These data suggest that B16-CM acts on endothelial cells, stimulating the digestion of endothelial collagen, and that the reduced content of collagen leads to the hyperpermeability of the endothelial monolayer [3].
• This endothelial collagen, termed EC, was also found to comprise the major collagen type synthesized by a malignant astrocytoma-derived cell line [4].
• The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3 [5].

Anatomical context of COL8A1

• RESULTS: In normal corneas, a regular array of colocalized COL8A1 and COL8A2 was observed in the anterior half of Descemet's membrane [6].
• In addition, EC, a novel endothelial collagen type that has been characterized in bovine endothelial cell supernates, was not present in the umbilical vein or tumor-derived endothelium [7].

References