Genetic Analysis of the X Chromosomes of Man and Mouse

Blair, Helen Jane (1996). Genetic Analysis of the X Chromosomes of Man and Mouse. MPhil thesis The Open University.



A detailed man-mouse comparative map aids the identification of mouse models for human inherited diseases and provides insight into the chromosomal rearrangements which have occurred during evolution. The man-mouse comparative map of the X chromosome is known to comprise at least eight conserved segments. Four of these lie in the human proximal short arm (Xp) in the CYBB-centromere region. Three share homology with the proximal, and one with the distal, region of the mouse X chromosome.

To improve the man-mouse comparative map of proximal Xp detailed recombination mapping has been performed. Panels of mice with recombination events in regions of the mouse X chromosome which share homology with human proximal Xp have been identified from laboratory M. musculus x M. spretus backcrosses. A high resolution map of the DXWas70 to Cybb region of the mouse X chromosome was created by analysis of additional recombination from the European Collaborative Interspecific Backcross. The order of loci and the position of evolutionary breakpoints (EBs) in human proximal Xp was established as: DMD - EB - XK - PFC - EB - GATAI - NPHL - EB - DXS674/DXS679 - ALAS2 - EB - DXF34.

Detailed physical analysis of the DXWas?0 to Cybb interval of the mouse X chromosome was carried out using YAC clones. YACs were analysed using PCR, PFGE and Southern and in situ hybridisation and as a result of these analyses, three YAC contigs were constructed. These include twelve YACs and may contains sequences at 2-3 evolutionary breakpoints. They may also contain the genes involved in the mouse mutant phenotypes tattered and scurfy.

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