TY - JOUR
T1 - ARX
T2 - a gene for all seasons
AU - Gécz, Jozef
AU - Cloosterman, Desiree
AU - Partington, Michael
N1 - Funding Information:
The authors would like to thank GR Sutherland for his constructive comments to the manuscript. This work was carried out with the support of the National Health and Medical Research Council of Australia.
PY - 2006/6
Y1 - 2006/6
N2 - The Aristaless-related homeobox gene, ARX, is an important transcription factor with a crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have been described in the ARX gene in seven X-chromosome linked disorders involving mental retardation. Recent studies with ARX screening suggest that the gene is mutated in 9.5% of X-linked families with these disorders. Two different polyalanine expansion mutations represent 46% of all currently known mutations and show considerable pleiotropy. The ARX gene is emerging as one of the more important disease-causing genes on the X chromosome and ought to be considered for routine screening. Although the normal Arx protein is known to be a bifunctional transcriptional activator and repressor, the complete biochemical characterization of the normal and mutated ARX awaits further investigation. Pax4 was identified as one of the ARX target genes, and both proteins have crucial functions in endocrine mouse pancreas α-cell and β-cell lineage specification.
AB - The Aristaless-related homeobox gene, ARX, is an important transcription factor with a crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have been described in the ARX gene in seven X-chromosome linked disorders involving mental retardation. Recent studies with ARX screening suggest that the gene is mutated in 9.5% of X-linked families with these disorders. Two different polyalanine expansion mutations represent 46% of all currently known mutations and show considerable pleiotropy. The ARX gene is emerging as one of the more important disease-causing genes on the X chromosome and ought to be considered for routine screening. Although the normal Arx protein is known to be a bifunctional transcriptional activator and repressor, the complete biochemical characterization of the normal and mutated ARX awaits further investigation. Pax4 was identified as one of the ARX target genes, and both proteins have crucial functions in endocrine mouse pancreas α-cell and β-cell lineage specification.
UR - http://www.scopus.com/inward/record.url?scp=33646508354&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2006.04.003
DO - 10.1016/j.gde.2006.04.003
M3 - Review article
C2 - 16650978
AN - SCOPUS:33646508354
SN - 0959-437X
VL - 16
SP - 308
EP - 316
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
IS - 3
ER -