Accession Number : ADA299265

Title :   Alternative Splicing in Normal Development and in Breast Cancer.

Descriptive Note : Annual rept. 1 Jul 94-30 Jun 95,

Corporate Author : CALIFORNIA UNIV SAN DIEGO LA JOLLA

Personal Author(s) : Bermingham, John R.

PDF Url : ADA299265

Report Date : 28 JUL 1995

Pagination or Media Count : 13

Abstract : Alterations in the splicing patterns of key regulatory genes are likely to play an important role in oncogenesis. The ASF/SF2 protein is one of a family of SR splicing factors that have been shown to regulate splice site choice in vitro. We have mapped the ASF/SF2 gene to 17q21.3-q22 in humans, and close to the Ovum mutant locus on chromosome 11 in mice. Our current objective is to examine the role of the ASF/SF2 gene in development and oncogenesis by observing the effects of disrupting the gene in mice. We have generated seven embryonic stem (ES) cell lines that are heterozygous for a deletion of the ASF/SF2 gene. Chimeric mice have been generated for four of these cell lines, but we have not yet achieved germ line transmission of the ASF/SF2 mutation. It is currently unclear whether this result is due to difficulties in the handling and/or injection of the ES cells, or is due to haploinsufficiency of the ASF/SF2 gene.

Descriptors :   *CANCER, *MAMMARY GLANDS, *ONCOGENIC VIRUSES, HUMANS, CHROMOSOMES, IN VITRO ANALYSIS, PATTERNS, MICE, SPLICES, GENETIC MAPPING, OVARIES.

Subject Categories : Anatomy and Physiology
      Medicine and Medical Research

Distribution Statement : APPROVED FOR PUBLIC RELEASE