Abstract

We have continued to study a number of complex and Mendelian genetic traits in humans. Now that we have determined the genetic defect in familial dysautonomia (Riley-Day Syndrome), we will attempt to create a mouse model of the trait as well as a mouse model of mucolipidosis IV. Our goal is to use the rodent models to understand the traits better and to develop and test therapies. On other fronts, we have continued working on the Mammalian Gene Collection, the goal of which is to clone and sequence full-length cDNAs corresponding to all human transcripts, along with the Brain Molecular Anatomy Project (BMAP). The goal of BMAP is to determine which genes are expressed in the central and peripheral nervous systems during development and in adulthood. To achieve this, we have printed large mouse (and human) expression arrays and have developed novel methods to prepare probes from small amounts of input RNA. This will permit us to analyze small tissue samples. In fact, we have already looked at gene expression patterns in 12 regions of the adult mouse brain, and in embryonal brain samples as well.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Intramural Research (Z01)
Project #
1Z01MH002771-05
Application #
6671637
Study Section
(LG)
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2002
Total Cost
Indirect Cost

  Institution

Name
U.S. National Institute of Mental Health
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Mutsuga, Noriko; Shahar, Tal; Verbalis, Joseph G et al. (2004) Selective gene expression in magnocellular neurons in rat supraoptic nucleus. J Neurosci 24:7174-85
Ahn, Joon-Ik; Lee, Ki-Hwan; Shin, Dong-Mi et al. (2004) Comprehensive transcriptome analysis of differentiation of embryonic stem cells into midbrain and hindbrain neurons. Dev Biol 265:491-501
Witmer, Philip D; Doheny, Kimberly F; Adams, Marcia K et al. (2003) The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Res 13:485-91
Xiang, C C; Chen, M; Kozhich, O A et al. (2003) Probe generation directly from small numbers of cells for DNA microarray studies. Biotechniques 34:386-8, 390, 392-3
Xiang, Charlie C; Chen, Mei; Ma, Li et al. (2003) A new strategy to amplify degraded RNA from small tissue samples for microarray studies. Nucleic Acids Res 31:e53
Tran, Simon D; Pillemer, Stanley R; Dutra, Amalia et al. (2003) Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study. Lancet 361:1084-8
Xiang, Charlie C; Brownstein, Michael J (2003) Preparing fluorescent probes for microarray studies. Methods Mol Biol 224:55-60
Mezey, Eva; Parmalee, Alissa; Szalayova, Ildiko et al. (2003) Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Brain Res 983:209-14
Wijsman, E M; Rosenthal, E A; Hall, D et al. (2003) Genome-wide scan in a large complex pedigree with predominantly male schizophrenics from the island of Kosrae: evidence for linkage to chromosome 2q. Mol Psychiatry 8:695-705, 643
Xiang, Charlie C; Brownstein, Michael J (2003) Fabrication of cDNA microarrays. Methods Mol Biol 224:1-7

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