The major focus of this project is the assessment of the functional information in genes and conserved non-transcribed elements within a 50 cM (~100 Mb) region in the proximal portion of mouse chromosome 5. Classical genetic studies in the mouse have resulted in the identification of several developmental mutations (Hm, Hx, Tht, tlt, W, Ph, Rw, rs, I, pi) within this region. For some of these mutations, the underlying molecular mechanisms and devlopmental pathways are known, and positional cloning efforts have contributed to high-resolution genetic and physical mapping of these loci. Several human disease genes, including those for Huntington's Disease, holoprosencephaly, Wolf-Hirschhorn syndrom, Wolfram syndrom, as well as possible susceptibility loci for autism, schizophrenia, bipolar disorder and other developmental or psychiatric diseases, have been mapped to the orthologous regions in the human genome (4p16-4q12, 2p23.1-2p23.3, 7q21-22 and 7q36).

To facilitate functional analysis of this 100 Mb chromosomal region in the mouse genome, we are integrating existing genomic resources (e.g., BAC fingerprint, RH, and genetic maps) with the Database of Transcribed Sequences (DoTS) developed by CBIL. The allgenes web site (http://www.allgenes.org) provides a comprehensive gene index for both human and mouse, using predicted transcribed sequences derived by assembling human and mouse EST and mRNA sequences. Although application of these tools has been on a genome-wide basis, focusing on the proximal portion of chromosome 5 has allowed us to curate and evaluate current resources.

Maja Bucan^1,2, Chris Stoeckert², Jonathan Schug², Jonathan Crabtree², Shannon McWeeney²