Comparative analysis of the <it>ATRX </it>promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function

• Main Authors: Argentaro Anthony, Frankenberg Stephen, Tang Paisu, Graves Jennifer M, Familari Mary
• Format: Article
• Language: English
• Published: BMC 2011-06-01
• Series: BMC Research Notes
• Online Access: http://www.biomedcentral.com/1756-0500/4/200
• ISSN: 1756-0500

<p>Abstract</p> <p>Background</p> <p>ATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the <it>ATRX </it>gene cause ATR-X syndrome, an X-linked recessive developmental disorder resulting in severe mental retardation and mild alpha-thalassemia with facial, skeletal and genital abnormalities. Although ubiquitously expressed the clinical features of the syndrome indicate that ATRX is not likely to be a global regulator of gene expression but involved in regulating specific target genes. The regulation of <it>ATRX </it>expression is not well understood and this is reflected by the current lack of identified upstream regulators. The availability of genomic data from a range of species and the very highly conserved 5' regulatory regions of the <it>ATRX </it>gene has allowed us to investigate putative transcription factor binding sites (TFBSs) in evolutionarily conserved regions of the mammalian <it>ATRX </it>promoter.</p> <p>Results</p> <p>We identified 12 highly conserved TFBSs of key gene regulators involved in biologically relevant processes such as neural and testis development and alpha-globin regulation.</p> <p>Conclusions</p> <p>Our results reveal potentially important regulatory elements in the <it>ATRX </it>gene which may lead to the identification of upstream regulators of <it>ATRX </it>and aid in the understanding of the molecular mechanisms that underlie ATR-X syndrome.</p>