International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

Table of Contents * Complex Genetics * Developmental Genetics * Gene Annotation * Gene Discovery * Genome Sequencing * Functional Genomics * Mutagenesis * Presentations * Verne Chapman Memorial Lecture

Dr Ian Smyth
MRC Human Genetics Unit
Western General Hospital
Crewe Rd
Edinburgh
EH4 2XU
UK

Co-Authors: 1)White S, 2)Gautier P, 2)Justice MJ, 1)Jackson IJ
Institutions: 1)MRC Human Genetics Unit, 2)Baylor College of Medicine

The tyrosinase related protein 1 (Tyrp1) or brown locus on mouse chromosome 4 is one of the best studied regions of the mouse genome.  Because chromosomal deletion of Tyrp1 gives rise to altered coat colour it has been used to gauge the mutagenic potential of various chemical and radioactive agents. Over the last 50 years a panel of 27 independent deletions have been characterised as a result such mutagenesis regimes.  We have utilised this resource and sequence data generated from a BAC contig across this 20Mb interval to define deletion breakpoints and to identify candidate genes for several mouse phenotypes known to map to this region.  These include depilated, a mutation affecting hair follicle biology; baf, a semi-viable mutant as well as several lethal loci revealed by the deletions themselves.  Additionally we have identified candidates for several mutants generated by a recessive ENU mutagenesis screen being carried out in collaboration with Baylor College of Medicine (see abstract by Holdsworth et al.).  Analysis of candidate genes by mutation detection, expression profiling and comparative genomics is underway.