International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Collins K
Department of Biomedical Sciences-State University of New York-Albany

Co-Authors: 2) DiRusso C, 1,3) Herron B, 1,3) Flaherty L
Institutions: 1) Department of Biomedical Sciences-State University of New York-Albany, 2) Albany Medical College, 3) Genomics Institute-Wadsworth Center, New York State Department of Health

The mutation scraggly (sgl) causes defects in skin and hair development as well as increased cholesterol ester formation in peripheral tissues. The mutation lies on mouse chromosome 19 between the genetic markers D19Mit109 and D19Mit10. These mice also have abnormally low levels or serum cholesterol and triglycerides. In examining candidate genes in the region, one gene, Elovl3/CiG30, a mouse homolog of a yeast fatty acid elongase Elo2, seemed a particularly likely candidate. From other studies, it is known that similar elongases are responsible for elongating fatty acids from 20 carbons to longer chain compounds and influence cholesterol and phospholipid metabolism. Sequencing of Elovl3 in homozygous scraggly mice showed a 4 bp deletion in exon 3. This mutation produces a +1 frameshift and a predicted deletion of 101 amino acids, including all fatty acid metabolizing motifs in the protein. Since this mutation was induced by chemical mutagenesis on an inbred background, this lesion is unlikely to be due to a normal polymorphism. Moreover, our Northern blot analyses indicate that there are substantial decreases of Elovl3/CiG30 transcripts in mutant mice. Significant decreases in serum cholesterol and triglyceride levels of the scraggly mice could therefore be due to the lack of this enzyme activity. A deeper understanding of this elongase pathway could lead to novel therapeutics for the treatment of hyperlipidemia and cardiovascular disease.

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