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

C. C. Ton; H. Hirvonen; H. Miwa; M. M. Weil; P. Monaghan; T. Jordan; V. van Heyningen; N. D. Hastie; H. Meijers-Heijboer; M. Drechsler

doi:https://doi.org/10.1016/0092-8674(91)90284-6

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

C. C. Ton, H. Hirvonen, H. Miwa, M. M. Weil, P. Monaghan, T. Jordan, V. van Heyningen, N. D. Hastie, H. Meijers-Heijboer, M. Drechsler

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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 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

Original language	English
Pages (from-to)	1059-1074
Journal	Cell
Volume	67
Issue number	6
DOIs	https://doi.org/10.1016/0092-8674(91)90284-6
Publication status	Published - 1991

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https://doi.org/10.1016/0092-8674(91)90284-6

Cite this

@article{29b33b0587b3467887544c358bb9f09b,

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

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 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",

author = "Ton, {C. C.} and H. Hirvonen and H. Miwa and Weil, {M. M.} and P. Monaghan and T. Jordan and {van Heyningen}, V. and Hastie, {N. D.} and H. Meijers-Heijboer and M. Drechsler",

year = "1991",

doi = "https://doi.org/10.1016/0092-8674(91)90284-6",

language = "English",

volume = "67",

pages = "1059--1074",

journal = "Cell",

issn = "0092-8674",

publisher = "Cell Press",

number = "6",

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TY - JOUR

T1 - Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

AU - Ton, C. C.

AU - Hirvonen, H.

AU - Miwa, H.

AU - Weil, M. M.

AU - Monaghan, P.

AU - Jordan, T.

AU - van Heyningen, V.

AU - Hastie, N. D.

AU - Meijers-Heijboer, H.

AU - Drechsler, M.

PY - 1991

Y1 - 1991

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 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

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 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

U2 - https://doi.org/10.1016/0092-8674(91)90284-6

DO - https://doi.org/10.1016/0092-8674(91)90284-6

M3 - Article

C2 - 1684738

SN - 0092-8674

VL - 67

SP - 1059

EP - 1074

JO - Cell

JF - Cell

IS - 6

ER -