The human BARX2 gene : genomic structure, chromosomal localization, and single nucleotide polymorphisms
(1999) In Genomics 62(3). p.456-459- Abstract
The BARX genes 1 and 2 are Bar class homeobox genes expressed in craniofacial structures during development. In this report, we present the genomic structure, chromosomal localization, and polymorphic markers in BARX2. The gene has four exons, ranging in size from 85 to 1099 bp. BARX2 is localized on human chromosome 11q25, as determined by radiation hybrid mapping. In the mouse, Barx2 is coexpressed with Pitx2 in several tissues. Based on the coexpression, BARX2 was assumed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations of PITX2. Mutations in PITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affecting eyes, teeth, and umbilicus. DNA from Rieger patients was... (More)
The BARX genes 1 and 2 are Bar class homeobox genes expressed in craniofacial structures during development. In this report, we present the genomic structure, chromosomal localization, and polymorphic markers in BARX2. The gene has four exons, ranging in size from 85 to 1099 bp. BARX2 is localized on human chromosome 11q25, as determined by radiation hybrid mapping. In the mouse, Barx2 is coexpressed with Pitx2 in several tissues. Based on the coexpression, BARX2 was assumed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations of PITX2. Mutations in PITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affecting eyes, teeth, and umbilicus. DNA from Rieger patients was subjected to single-strand conformation polymorphism screening of the BARX2 coding region. Three single nucleotide polymorphisms were found in a normal population, although no etiologic mutations were detectable in over 100 cases of Rieger syndrome or in individuals with related ocular disorders.
(Less)
- author
- Hjalt, Tord Å. LU and Murray, Jeffrey C.
- publishing date
- 1999-12-15
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Alleles, Anterior Chamber/abnormalities, Chromosomes, Human, Pair 11/genetics, Craniofacial Abnormalities/genetics, Exons/genetics, Eye Abnormalities/genetics, Gene Frequency, Homeodomain Proteins/genetics, Humans, Introns/genetics, Molecular Sequence Data, Physical Chromosome Mapping, Point Mutation/genetics, Polymerase Chain Reaction, Polymorphism, Genetic/genetics, Polymorphism, Single-Stranded Conformational, Promoter Regions, Genetic/genetics, Sequence Analysis, DNA, Syndrome
- in
- Genomics
- volume
- 62
- issue
- 3
- pages
- 4 pages
- publisher
- Academic Press
- external identifiers
-
- scopus:0033572214
- pmid:10644443
- ISSN
- 0888-7543
- DOI
- 10.1006/geno.1999.6037
- language
- English
- LU publication?
- no
- additional info
- Copyright 1999 Academic Press.
- id
- 8be63fa3-0871-43c2-8a68-a5050dc4a021
- date added to LUP
- 2023-11-16 11:28:31
- date last changed
- 2024-01-14 04:11:56
@article{8be63fa3-0871-43c2-8a68-a5050dc4a021,
abstract = {{<p>The BARX genes 1 and 2 are Bar class homeobox genes expressed in craniofacial structures during development. In this report, we present the genomic structure, chromosomal localization, and polymorphic markers in BARX2. The gene has four exons, ranging in size from 85 to 1099 bp. BARX2 is localized on human chromosome 11q25, as determined by radiation hybrid mapping. In the mouse, Barx2 is coexpressed with Pitx2 in several tissues. Based on the coexpression, BARX2 was assumed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations of PITX2. Mutations in PITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affecting eyes, teeth, and umbilicus. DNA from Rieger patients was subjected to single-strand conformation polymorphism screening of the BARX2 coding region. Three single nucleotide polymorphisms were found in a normal population, although no etiologic mutations were detectable in over 100 cases of Rieger syndrome or in individuals with related ocular disorders.</p>}},
author = {{Hjalt, Tord Å. and Murray, Jeffrey C.}},
issn = {{0888-7543}},
keywords = {{Alleles; Anterior Chamber/abnormalities; Chromosomes, Human, Pair 11/genetics; Craniofacial Abnormalities/genetics; Exons/genetics; Eye Abnormalities/genetics; Gene Frequency; Homeodomain Proteins/genetics; Humans; Introns/genetics; Molecular Sequence Data; Physical Chromosome Mapping; Point Mutation/genetics; Polymerase Chain Reaction; Polymorphism, Genetic/genetics; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic/genetics; Sequence Analysis, DNA; Syndrome}},
language = {{eng}},
month = {{12}},
number = {{3}},
pages = {{456--459}},
publisher = {{Academic Press}},
series = {{Genomics}},
title = {{The human BARX2 gene : genomic structure, chromosomal localization, and single nucleotide polymorphisms}},
url = {{http://dx.doi.org/10.1006/geno.1999.6037}},
doi = {{10.1006/geno.1999.6037}},
volume = {{62}},
year = {{1999}},
}