Leber congenital amaurosis (LCA) is the most early and severe form of all inherited retinal dystrophies, responsible for congenital blindness. The genetic heterogeneity of LCA has been accepted for a ...long time but it turned out to be largely higher than all odds. So far, 11genes have been mapped on human chromosomes and eight identified. i) the retinal specific guanylate cyclase gene (GUCY2D, retGC1; 17p13.1; LCA1; MIM 600179), ii) the gene encoding the 65-kD protein specific to the retinal pigment epithelium (RPE65; 1p31; LCA2; MIM180069), iii) the cone-rod homeobox-containing gene (CRX; 19q13.3; LCA7; MIM 60225), iv) the gene encoding the arylhydrocarbon receptor interacting protein-like 1 (AIPL1; 17p13.1; LCA; MIM 604392), v) the gene encoding the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1; 14q11; LCA6; MIM 605446), vi) the human homologue of the drosophila melanogater crumbs gene (CRB1; 1q31; LCA8; MIM 604210), vii) the gene encoding the tubby-like protein 1 (TULP1; 6q21.3; LCA10; MIM 602280), viii) the retinol dehydrogenase 12 (RDH12; 14q24; LCA11; MIM 608830), ix) LCA3 (14q24; MIM 604232), x) LCA5 (6q11-16; MIM 604537) and xi) LCA9 (1p36; MIM608553).
The human inter‐α‐trypsin inhibitor (ITI) light‐chain gene, which codes for the two proteins α1‐microglobulin (protein HC) and ITI‐derived human inhibitor of 30 kDa (HI‐30), was isolated from a human ...genomic library. This gene, present as a single copy in the human genome, is composed of 10 exons and 9 introns distributed over 20 kbp. A single transcriptional initiation site was identified in the 5′‐flanking region which contained promoter elements, but no typical TATA box. However a sequence equivalent to the TATA box is present on both sense and anti‐sense strands in the 5′‐flanking region of the first exon coding for HI‐3C. The exon‐intron organization suggets that the region coding for protein HC and other members of the lipocalin superfamily evolved from a common ancestral gene that is probabaly differnt from that coding for HI‐30 These data suggest that two distinct ancestral genes could have existed and fused during evolution. Several direct and one inverted repeats are also found within this gene, as well as potential glucorticoid‐receptor binding sites.
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