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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Extra info for Advances in Human Genetics
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.