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

Cell. 1991 Dec 20;67(6):1059-74. doi: 10.1016/0092-8674(91)90284-6.


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 less than 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Aniridia / genetics*
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11*
  • Cloning, Molecular
  • DNA / genetics
  • DNA-Binding Proteins / genetics*
  • Eye / embryology
  • Gene Expression
  • Genes, Homeobox*
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • RNA, Messenger
  • Restriction Mapping
  • Sequence Alignment
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • RNA, Messenger
  • Transcription Factors
  • DNA

Associated data

  • GENBANK/M60962
  • GENBANK/M64383
  • GENBANK/M64384
  • GENBANK/M77844
  • GENBANK/S44821
  • GENBANK/S54656
  • GENBANK/S54711
  • GENBANK/S55197
  • GENBANK/S56137
  • GENBANK/S56139