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MULTIFACTORIAL INHERITANCE OF NEURAL-TUBE DEFECTS - LOCALIZATION OF THE MAJOR GENE AND RECOGNITION OF MODIFIERS IN CT MUTANT MICE
Author(s): NEUMANN PE, FRANKEL WN, LETTS VA, COFFIN JM, COPP AJ, BERNFIELD M
Source: NATURE GENETICS    Volume: 6    Issue: 4    Pages: 357-362    Published: APR 1994  
Times Cited: 84     References: 51     
Abstract: Neural tube defects (NTD) in humans have been considered to have a multifactorial aetiology, however the participating genes have not been identified. The curly-tail (ct) mutant mouse develops NTD that resemble the human malformations in location, pathology and associated abnormalities. Moreover, there appears to be multifactorial influence on the incidence of NTD in offspring of curly-tail mice. We now describe a linkage analysis that localizes the ct gene to distal chromosome 4 in mice. Further analysis using recombinant inbred strains demonstrates the presence of at least three modifier loci that influence the incidence of NTD. This study provides definitive evidence for multifactorial inheritance in a mouse model of human NTD.
Document Type: Article
Language: English
Addresses:
1. HARVARD UNIV, CHILDRENS HOSP, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA
2. HARVARD UNIV, SCH MED, JOINT PROGRAM NEONATOL, BOSTON, MA 02115 USA
3. TUFTS UNIV, SCH MED, DEPT MOLEC BIOL, BOSTON, MA 02111 USA
4. JACKSON LAB, BAR HARBOR, ME 04609 USA
5. UNIV LONDON, INST CHILD HLTH, LONDON WC1N 1EH, ENGLAND
Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707
Subject Category: Genetics & Heredity
IDS Number: ND870
ISSN: 1061-4036
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