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- Title
Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.
- Authors
Riggs, Andrew C.; Tanizawa, Yukio; Aoki, Minoru; Wasson, Jon; Ferrer, Jorge; Rabin, Daniel U.; Vaxillaire, Martine; Froguel, Philippe; Permutt, M. Alan; Riggs, A C; Tanizawa, Y; Aoki, M; Wasson, J; Ferrer, J; Rabin, D U; Vaxillaire, M; Froguel, P; Permutt, M A
- Abstract
Islet-1 (Isl-1) is a unique transcription factor that binds to the enhancer region of the insulin gene. To evaluate this gene in non-insulin-dependent diabetes mellitus (NIDDM), a full-length human Isl-1 cDNA was isolated and the genomic structure was characterized. The cDNA [2,395 bp plus additional poly(A) residues] contained an open reading frame from an initiator methionine at nucleotide 240 to an opal stop codon at nucleotide 1,286 (GenBank accession number UO7559), encoding a predicted protein of 349 amino acids (39 kDa). From their ends, 23 additional clones were sequenced, revealing 15 incomplete cDNAs and 8 intron-containing partially processed precursors. As determined by Northern blotting and reverse transcriptase-polymerase chain reaction analysis, Isl-1 was most abundantly expressed as a 2.4-kb mRNA in human islets, with a restricted pattern of expression in other adult human tissues. Analysis of genomic clones revealed that Isl-1 is encoded by six exons, varying in size from 168 bp (exon 5) to 1,230 bp (exon 6). Exons 2 and 3 each encode a LIM domain, while the homeodomain is completely contained within exon 4.(ABSTRACT TRUNCATED AT 250 WORDS)
- Publication
Diabetes, 1995, Vol 44, Issue 6, p689
- ISSN
0012-1797
- Publication type
journal article
- DOI
10.2337/diab.44.6.689