Document Type
Article
Disciplines
Dentistry | Medicine and Health Sciences
Abstract
Two members of the TFII-I family transcription factor genes, GTF2I and GTF2IRD1, are the prime candidates responsible for the craniofacial and cognitive abnormalities of Williams syndrome patients. We have previously generated mouse lines with targeted disruption of Gtf2ird1 and Gtf2i. Microarray analysis revealed significant changes in the expression profile of mutant embryos. Here we described three unknown genes that were dramatically down-regulated in mutants. The 2410018M08Rik/Scand3 gene encodes a protein of unknown function with CHCH and hATC domains. Scand3 is downregulated during mouse embryonic stem cell (ES) differentiation. 4933436H12Rik is a testis-specific gene, which encodes a protein with no known domains. It is expressed in mouse ES cells. 1110008P08Rik/Kbtbd7 encodes an adapter protein with BTB/POZ, BACK and Kelch motifs, previously shown to recruit substrates to the enzymatic complexes of the histone modifying or E3 ubiquitin ligase activities. Based on the expression pattern Kbtbd7 may have a specific role in brain development and functioning. All three genes possess well-conserved TFII-I-binding consensus sites within proximal promoters. Therefore our analysis suggests that these genes can be direct targets of TFII-I proteins and their impaired expression, as a result of the GTF2I and GTF2IRD1 haploinsufficiency, could contribute to the etiology of Williams syndrome.
Recommended Citation
Makeyev, Aleksandr V. and Bayarsaihan, Dashzeveg, "New TFII-I Family Target Genes Involved in Embryonic Development" (2009). SoDM Articles. 1.
https://digitalcommons.lib.uconn.edu/sodm_articles/1
Comments
Author manuscript; available in PMC 2011 May 11.
PMCID: PMC3092703
Published in final edited form as: Biochem Biophys Res Commun. 2009 September 4; 386(4): 554–558. Published online 2009 June 13. doi: 10.1016/j.bbrc.2009.06.045.