TY - JOUR
T1 - Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
AU - Ton, Carl C.T.
AU - Hirvonen, Harri
AU - Miwa, Hiroshi
AU - Weil, Michael M.
AU - Monaghan, Paula
AU - Jordan, Tim
AU - van Heyningen, Veronica
AU - Hastie, Nicholas D.
AU - Meijers-Heijboer, Hanne
AU - Drechsler, Matthias
AU - Royer-Pokora, Brigitte
AU - Collins, Francis
AU - Swaroop, Anand
AU - Strong, Louise C.
AU - Saunders, Grady F.
N1 - Funding Information:
We would like to express our thanks to Drs. Brigid Hogan for the 8.5 day mouse embryo cDNA library and Marc Hansen for his assistance with aspects of the computer analysis. We also thank Drs. A. Blankena-gel and T. Schroeder-Kurth for conducting clinical examinations and for help in obtaining blood from AN patients. We also appreciate the secretarial help of Ruby Desiderio. C. C. T. T. is a Predoctoral Fellow at the University of Texas Graduate School of Biomedical Sciences. P. M. was supported by the Ross Foundation. This work was supported in part by the Texas Advanced Research Program and National Institutes of Health grants (CA 34938, CA 48720, CA 18872) to G. F. S. Funds from DFG grant Ro/501/3-3 to 8. R.-P. were used for this work. F. C. is an investigator of the Howard Hughes Medical Institute and received support from NIH grant HGOO244.
PY - 1991/12/20
Y1 - 1991/12/20
N2 - 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.
AB - 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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U2 - 10.1016/0092-8674(91)90284-6
DO - 10.1016/0092-8674(91)90284-6
M3 - Article
C2 - 1684738
AN - SCOPUS:0026315044
SN - 0092-8674
VL - 67
SP - 1059
EP - 1074
JO - Cell
JF - Cell
IS - 6
ER -