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| Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down's syndrome |
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| Author(s): Smith DJ, Stevens ME, Sudanagunta SP, Bronson RT, Makhinson M, Watabe AM, ODell TJ, Fung J, Weier HUG, Cheng JF, Rubin EM |
| Source: NATURE GENETICS Volume: 16 Issue: 1 Pages: 28-36 Published: MAY 1997 |
| Times Cited: 163 References: 46 |
| Abstract: Using Down syndrome as a model for complex trait analysis, we sought to identify loci from chromosome 21q22.2 which, when present in an extra dose, contribute to learning abnormalities. We generated low-copy-number transgenic mice, containing four different yeast artificial chromosomes (YACs) that together cover approximately 2 megabases (Mb) of contiguous DNA from 21q22.2. We subjected independent lines derived from each of these YAC transgenes to a series of behavioural and learning assays. Two of the four YACs caused defects in learning and memory in the transgenic animals, while the other two YACs had no effect. The most severe defects were caused by a 570-kb YAC; the interval responsible for these defects was narrowed to a 180-kb critical region as a consequence of YAC fragmentation, This region contains the human homologue of a Drosophila gene, minibrain, and strongly implicates it in learning defects associated with Down syndrome. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF BERKELEY, LAWRENCE BERKELEY LAB, CTR HUMAN GENOME, BERKELEY, CA 94720 USA
2. TUFTS UNIV, SCH MED, USDA, HUMAN NUTR RES CTR AGING, BOSTON, MA 02111 USA
3. TUFTS UNIV, SCH VET MED, BOSTON, MA 02111 USA
4. JACKSON LAB, BAR HARBOR, ME 04609 USA
5. UNIV CALIF LOS ANGELES, SCH MED, DEPT PHYSIOL, LOS ANGELES, CA 90024 USA
6. UNIV CALIF LOS ANGELES, SCH MED, BRAIN RES INST, LOS ANGELES, CA 90024 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: WX024 |
| ISSN: 1061-4036 |
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