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 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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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.

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