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| SPLOTCH (SP2H), A MUTATION AFFECTING DEVELOPMENT OF THE MOUSE NEURAL-TUBE, SHOWS A DELETION WITHIN THE PAIRED HOMEODOMAIN OF PAX-3 |
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| Author(s): EPSTEIN DJ, VEKEMANS M, GROS P |
| Source: CELL Volume: 67 Issue: 4 Pages: 767-774 Published: NOV 15 1991 |
| Times Cited: 531 References: 46 |
| Abstract: The molecular basis of the mouse mutation splotch (Sp), which is associated with spina bifida and exencephaly, was analyzed at three of its alleles, Sp, Sp2H, and Sp(r). We mapped the paired box gene Pax-3 within the Inha to Akp3 interval, near or at the Sp locus on chromosome 1, and found Pax-3 to be deleted in heterozygous Sp(r)/+ mice. Analysis of genomic DNA and cDNA clones constructed from Sp2H/Sp2H embryos identified a deletion of 32 nucleotides in the Pax-3 mRNA transcript and gene. This deletion maps within the paired homeodomain of PAX-3 and is predicted to create a truncated protein as a result of a newly created termination codon at the deletion breakpoint. Our study provides evidence for a causal link between deletion of the paired homeodomain of Pax-3 and the Sp2H mutation, and infers that Pax-3 plays a key role in normal neural development. |
| Document Type: Article |
| Language: English |
| Reprint Address: EPSTEIN, DJ (reprint author), MCGILL UNIV, DEPT BIOL, MONTREAL H3G 1Y6, QUEBEC CANADA |
Addresses:
1. MCGILL UNIV, DEPT BIOCHEM, MONTREAL H3G 1Y6, QUEBEC CANADA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: GQ407 |
| ISSN: 0092-8674 |
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