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

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

Research output: Contribution to journal › Article › peer-review

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)	1059-74
Number of pages	16
Journal	Cell
Volume	67
Issue number	6
Publication status	Published - 20 Dec 1991

Keywords

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

Cite this

@article{a7898207264e41ed95b99ef88ec31998,

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.",

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

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",

month = dec,

day = "20",

language = "English",

volume = "67",

pages = "1059--74",

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 - 1991/12/20

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 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.

KW - Amino Acid Sequence

KW - Aniridia

KW - Base Sequence

KW - Blotting, Northern

KW - Blotting, Southern

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 11

KW - Cloning, Molecular

KW - DNA

KW - DNA-Binding Proteins

KW - Eye

KW - Gene Expression

KW - Genes, Homeobox

KW - Humans

KW - Molecular Sequence Data

KW - Nucleic Acid Hybridization

KW - RNA, Messenger

KW - Restriction Mapping

KW - Sequence Alignment

KW - Transcription Factors

M3 - Article

C2 - 1684738

VL - 67

SP - 1059

EP - 1074

JO - Cell

JF - Cell

SN - 0092-8674

IS - 6

ER -

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

Abstract

Keywords

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