Abstract

The research outlined in this proposal is designed to enhance our understanding of the structure and functional organization of the human sex chromosomes. The experiments described should clarify the evolutionary origins of the X and Y chromosomes, and aspect of their role in sex determination. The regulation of gene expression on the X and Y through th process of X inactivation will be studied which should provide insight into general mechanisms involved in the control of development and may help clarify the pathogenesis of sex chromosome aneuploid disorders such as the Turner syndrome and the Klinefelter syndrome. Detailed mapping of this region will contribute to the goals of the human genome initiative. A grou of promoter sequences which escape inactivation will be characterized and the information derived may be of use in designing vectors for gene therap experiments. Finally, the mechanisms which produce frequent deletions of DNA from the X chromosome will be explored. These studies should provide insight into the cause of deletions in such human disorders as X-linked ichthyosis, thalassemia, and muscular dystrophy

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
7R01HD012178-14
Application #
3311816
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1978-08-01
Project End
1995-03-31
Budget Start
1992-04-01
Budget End
1993-03-31
Support Year
14
Fiscal Year
1992
Total Cost
Indirect Cost

  Institution

Name
University of California San Francisco
Department
Type
Schools of Medicine
DUNS #
073133571
City
San Francisco
State
CA
Country
United States
Zip Code
94143

  Publications

Li, X M; Salido, E C; Shapiro, L J (1999) The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1. Somat Cell Mol Genet 25:67-77
Li, X M; Alperin, E S; Salido, E et al. (1996) Characterization of the promoter region of human steroid sulfatase: a gene which escapes X inactivation. Somat Cell Mol Genet 22:105-17
Salido, E C; Li, X M; Yen, P H et al. (1996) Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts). Nat Genet 13:83-6
Glass, I A; Passage, M; Bernatowicz, L et al. (1996) Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments. Hum Genet 97:604-10
Li, X M; Salido, E C; Gong, Y et al. (1996) Cloning of the rat steroid sulfatase gene (Sts), a non-pseudoautosomal X-linked gene that undergoes X inactivation. Mamm Genome 7:420-4
Yen, P H; Salido, E; Shapiro, L et al. (1994) An EcoRI RFLP at the D6S509E locus. Hum Mol Genet 3:388
Wu, J; Ellison, J; Salido, E et al. (1994) Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Hum Mol Genet 3:153-60
Salido, E C; Passage, M B; Yen, P H et al. (1993) An evaluation of the inactive mouse X chromosome in somatic cell hybrids. Somat Cell Mol Genet 19:65-71
Li, X M; Shapiro, L J (1993) Three-step PCR mutagenesis for 'linker scanning'. Nucleic Acids Res 21:3745-8
Carrozzo, R; Ellison, J; Yen, P et al. (1992) Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics 12:7-12

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