Identification of the murine beige gene by YAC complementation and positional cloning
| Autor: | Liangtao Li, Karen J. Moore, Barry J. Dussault, Charles M. Perou, Monica J. Justice, Thomas H. Brody, Elizabeth A. Woolf, Lisa Holmgren, Cheryl A. Monroe, Robert J. Pryor, Sonja H. McGrail, Deborah L. Nagle, Donald J. Misumi, Jerry Kaplan, Geoffrey M. Duyk |
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| Rok vydání: | 1996 |
| Předmět: |
Positional cloning
Sequence analysis Mutant Molecular Sequence Data Vesicular Transport Proteins Mice Inbred Strains Biology Homology (biology) Mice hemic and lymphatic diseases Genetics Animals Humans Amino Acid Sequence Cloning Molecular Peptide sequence Gene Chromosomes Artificial Yeast Base Sequence Sequence Homology Amino Acid Genetic Complementation Test Nucleic acid sequence Intracellular Signaling Peptides and Proteins Chromosome Mapping Proteins Sequence Analysis DNA Mice Mutant Strains Complementation Protein Biosynthesis Mutation Chediak-Higashi Syndrome |
| Zdroj: | Nature genetics. 13(3) |
| ISSN: | 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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