ysblcc sox2-sc-2010-03-22
ysblcc sox2
Lcc and Ysb are both regulatory alleles of Sox2 in which otic-specific transcription is compromised. In Lcc/Lcc Sox2 expression is severely reduced by loss or translocation of Sox2 otic-specific regulatory elements. The mutations for Ysb, which arose due to insertion of a transgene (pAA2) at 2 sites, and Lcc, caused by X-irradiation, both localize  to chromosome 3 and involve complex chromosomal rearrangements.  The partial loss of Sox2 expression in Ysb could be caused by disruption of otic regulatory elements by insertion of the LacZ transgene (pAA2) or because of the juxtaposition of the transgene with Sox2 regulatory elements, resulting in promoter/enhancer interference or competition. We aim to determine  the precise genomic changes in both these mutants. We will sequence the genome of these mice using pair end ILLUMINA SOLEXA technologies. By investigating read pairs which don’t align correctly with respect to each other on the reference mouse genome, we may be able to identify anomalies the genomic region of SOX2 ( deletion amplification translocation or inversion).  If overlapping events between the 2 alleles are found, this will facilitate the identification of regulatory elements of Sox2. The information obtained will also make important contribution to the development of strategies to test the utility of targeted Sox2 expression in stimulating regeneration of a functional sensory epithelium.  . This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/
This project focuses on determining the genomic changes that gave rise to two deaf and balance-impaired allelic Sox2  mouse mutants using sequencing, Light coat and circling (Lcc) and Yellow submarine (Ysb).  Lcc and Ysb are both regulatory alleles of Sox2 on chromosome 3 in which otic-specific transcription is compromised. In Lcc/Lcc Sox2 expression is severely reduced by loss or translocation of Sox2 otic-specific regulatory elements.