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| Identification of the murine beige gene by YAC complementation and positional cloning |
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| Author(s): Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ, Monroe CA, Duyk GM, Pryor RJ, Li LT, Justice MJ, Kaplan J |
| Source: NATURE GENETICS Volume: 13 Issue: 3 Pages: 303-308 Published: JUL 1996 |
| Times Cited: 125 References: 30 |
| Abstract: The beige mutation is a murine autosomal recessive disorder, resulting in hypopigmentation, bleeding and immune cell dysfunction. The gene defective in beige is thought to be a homologue of the gene for the human disorder Chediak-Higashi syndrome. We have identified the murine beige gene by in vitro complementation and positional cloning, and confirmed its identification by defining mutations in two independent mutant alleles. The sequence of the beige gene message shows strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the Chediak-Higashi syndrome gene. The amino acid sequence of the Beige protein revealed a novel protein with significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae, Caenorhabditis elegans and humans. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV UTAH, SCH MED, DEPT PATHOL, DIV CELL BIOL & IMMUNOL, SALT LAKE CITY, UT 84132 USA
2. MILLENNIUM PHARMACEUT INC, CAMBRIDGE, MA 02139 USA
3. OAK RIDGE NATL LAB, DIV BIOL, OAK RIDGE, TN 37831 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: UU283 |
| ISSN: 1061-4036 |
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