Advances in Human Genetics by Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry

By Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry Harris, Kurt Hirschhorn (eds.)

From experiences of prior volumes within the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The so much lucid and stimulating discussions of the subject to be chanced on anywhere.'-American Scientist

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L. P, 1994, Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a ') and white-bellied agouti (AW) reveals alternative forms of agouti transcripts, Genes Dev. 8:481-490 . , 1989, Conservation of the paired domain in metazoans and its structure in three isolated human genes, EMBO J. 8:1183-1190 . , 1989, Hypopigmentation: A common feature of Prader-Labhart- Willi syndrome , Am . J. Hum. Genet . 45:140-146 . , 1980, Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants, Biochem , Genet.

The hum an PAX3 polypeptide contains four principal structural motifs: the " paired box" domain, a homeobox domain, a conserved octapeptide , and a serinethreonine-proline-rich carboxyl segment (Fig . 5). The 128- amino acid paired box domain , from which the name of the gene is derived , and the 60- amino acid homeobox domain are both highly conserved amino acid sequence moti fs present in a number of mammalian and Drosophila gene s involved in controlling seg mentation. The se motifs form a helix-tum-helix structure and are both thou ght to med iate DNA bindin g.

Spritz and Vincent J. Hearing, Jr. , 1990). Subsequently, specific TYR gene mutations were demonstrated in patients with type I OCA by nucleotide sequence analyses of TYR cDNAs cloned from cultured melanocytes (Tomita et al . , 1990). As shown in Figure 2 and Table II, at least 60 different pathologic mutations of the TYR gene have been identified to date in patients with various forms of type I OCA (reviewed in Oetting and King , 1993; Spritz, 1993b; Spritz, 1994a). These include missense mutations that result in amino acid substitutions, nonsense mutations that result in premature termination of translation, frameshifts, and mutations that interfere with normal pre-mRNA splicing.

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