By Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry Harris, Kurt Hirschhorn (eds.)
From studies of earlier volumes within the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The such a lot lucid and stimulating discussions of the subject to be came upon anywhere.'-American Scientist
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Extra resources for Advances in Human Genetics
1993, Melanocytes from an individual with brown oculocutaneous albinism lack expression of TRP-l , the product of the human homolog of the murine brown locus, Am . 1. Hum . Genet . ):160. , 1965, Electron microscopy of melanocyte s in a case of human piebaldism, J. Invest. Dermatol . 45:28-37 . P, 1992, Molecular characterization of the mouse agouti locus, Cell 71:1195-1204. 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.
However, Wagstaff (1993) demonstrated deletion of TYRP in two patients with the 9p-syndrome plus moderate hypopigmentation, and in one patient with " brown OCA" Boissy and coworkers (1993) found virtually no TYRP 20 Richard A. Spritz and Vincent J. Hearing, Jr. mRNA and no detectable TRP-1. This patient may thus have true " brown OCA," and eventual molecular analyses of his TYRP gene will be of considerable interest. X-Linked Recessive Ocular Albinism, Nettleship-Falls Type (OA1; MIM #300500) Ocular albinism of the Nettleship-Falls type (OAI) is an X-linked recessive disorder with clinical characteristics similar to AROA.
1993a), sugge sting that this recurrent KIT gene mutation may account for a significant fraction of human piebaldi sm , especially among clinically milder case s. The third group of patients with piebaldism exhibits a rather variable phenotype, ranging from extremely mild to quite severe, even among affected members of an individual family. We have identified four different KIT mutations of this type ; three frame shifts and a splice junction mutation (see Table IV). 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.