By Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry Harris, Kurt Hirschhorn (eds.)
From experiences of earlier volumes within the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The so much lucid and stimulating discussions of the subject to be discovered anywhere.'-American Scientist
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1989). More important, this suggest s that treatment with exogenous tyrosine or other agents may offer an approach to pharmacologic therapy for patients with type II OCA . Type IV (Brown) OCA (MIM #203290) Originally described in patients from Nigeria, "brown OCA" is associated with moderate hypopigmentation of the skin, hair, and eyes, and modest ocular dysfunction . Brown OCA has long been considered a possible human homologue of brown (b) mutant mice, which exhibit brown coat color (Silvers, 1979; Lyon and Searle , 1991).
1993; Lee et al . , 1994b ,c). Th is success resulted from the coa lescence of several seemingly unrelated lines of data. First , we isolated a 16 Richard A. Spritz and Vincent J. Hearing, Jr. , 1992; Rinchik et al. , 1993). , 1992). This is essentially the same chromosomal region that is commonly deleted in patients with the Prader-Willi (PWS; MIM #176270) and Angelman (AS; MIM #105830) syndromes (reviewed in Nicholls, 1993), both of which are often associated with significant hypopigmentation (Butler, 1989).
As shown in Fig. 4, all of these would result in premature termination of translation , truncating the nascent KIT polypeptide distally within the intracellular tyrosine kina se domain. Clearly, these mutation s would abolish expression of normal KIT polypeptide from this allele . , 1992). It is likely, however, that both the truncated KIT polypeptides and the incompletely tran slated KIT mRNA are relatively unstable . Therefore, these mutations probably reduce KIT function to an amount between one-fourth and one-half of normal , accounting for the intermediate and highly variable piebald phenotype .