Cell
Volume 67, Issue 6, 20 December 1991, Pages 1059-1074
Journal home page for Cell

Article
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

https://doi.org/10.1016/0092-8674(91)90284-6Get rights and content

Abstract

Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The <70 kb smallest region of overlap between the two deletions encompasses the 3′ coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene.

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