PMID- 10644443
OWN - NLM
STAT- MEDLINE
DCOM- 20000302
LR  - 20081121
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 3
DP  - 1999 Dec 15
TI  - The human BARX2 gene: genomic structure, chromosomal localization, and single
      nucleotide polymorphisms.
PG  - 456-9
AB  - 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.
CI  - Copyright 1999 Academic Press.
FAU - Hjalt, T A
AU  - Hjalt TA
AD  - Department of Pediatrics, University of Iowa, 140 EMRB, Iowa City, Iowa 52242,
      USA.
FAU - Murray, J C
AU  - Murray JC
LA  - eng
SI  - GENBANK/AF171219
SI  - GENBANK/AF171220
SI  - GENBANK/AF171221
SI  - GENBANK/AF171222
SI  - GENBANK/AH008405
GR  - DE08559-10/DE/NIDCR NIH HHS/United States
GR  - EY-12384/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (BARX2 protein, human)
RN  - 0 (Homeodomain Proteins)
SB  - IM
MH  - Alleles
MH  - Anterior Chamber/abnormalities
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Craniofacial Abnormalities/genetics
MH  - Exons/genetics
MH  - Eye Abnormalities/genetics
MH  - Gene Frequency
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Introns/genetics
MH  - Molecular Sequence Data
MH  - Physical Chromosome Mapping
MH  - Point Mutation/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Promoter Regions, Genetic/genetics
MH  - Sequence Analysis, DNA
MH  - Syndrome
EDAT- 2000/01/25 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/geno.1999.6037 [doi]
AID - S0888-7543(99)96037-8 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 15;62(3):456-9. doi: 10.1006/geno.1999.6037.