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The mouse is a powerful model organism for studying human disease. By the use of various breeding strategies in combination with positional cloning and positional candidates, many genes underlying human disease have been and will continue to be discovered through the use of mouse genetics. The author illustrates how the mouse can be used to discover human disease genes underlying simple mendelian...
We recently described a novel gene, melastatin, whose expression is inversely correlated with melanoma aggressiveness. Chromosomal localization of this gene places it on mouse chromosome 7 and in the 15q13–q14 region of the human genome. Although expression patterns and chromosomal localization in the mouse are consistent with involvement of melastatin mutations in the mouse ruby-eye-2 defect, congenic...
During the recent cloning of the mouseLystgene we developed both a high-resolution genetic map and a complete YAC and BAC contig of theLystcritical region on mouse Chromosome 13. We also report the mapping of the human homologue of the mouseLystgene (LYST) to 1q43. These data are consistent withLYSTbeing the gene for the human Chediak–Higashi Syndrome and strengthen the synteny relationship between...
Dyneins are multisubunit mechanochemical enzymes capable of interacting with microtubules to generate force. Axonemal dyneins produce the motive force for ciliary and flagellar beating by inducing sliding between adjacent microtubules within the axoneme. Cytoplasmic dyneins translocate membranous organelles and chromosomes toward the minus ends of cytoplasmic microtubules. Dynactin is an accessory...
The mutated gene responsible for the tubby obesity phenotype has been identified by positional cloning. A single base change within a splice donor site results in the incorrect retention of a single intron in the mature tub mRNA transcript. The consequence of this mutation is the substitution of the carboxy-terminal 44 amino acids with 24 intron-encoded amino acids. The normal transcript appears to...
The ob gene product, leptin, is an important circulating signal for the regulation of body weight. To identify high affinity leptin-binding sites, we generated a series of leptin-alkaline phosphatase (AP) fusion proteins as well as [ 125 I]leptin. After a binding survey of cell lines and tissues, we identified leptin-binding sites in the mouse choroid plexus. A cDNA expression library...
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