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Diabetes, Vol 44, Issue 6 689-694, Copyright © 1995 by American Diabetes Association

ARTICLES

Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM

AC Riggs, Y Tanizawa, M Aoki, J Wasson, J Ferrer, DU Rabin, M Vaxillaire, P Froguel and MA Permutt
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

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)
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M. Barat-Houari, K. Clement, V. Vatin, C. Dina, G. Bonhomme, F. Vasseur, B. Guy-Grand, and P. Froguel
Positional Candidate Gene Analysis of Lim Domain Homeobox Gene (Isl-1) on Chromosome 5q11-q13 in a French Morbidly Obese Population Suggests Indication for Association With Type 2 Diabetes
Diabetes, May 1, 2002; 51(5): 1640 - 1643.
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Copyright © 1995 by the American Diabetes Association.