Download e-book for kindle: 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.)

ISBN-10: 1475790643

ISBN-13: 9781475790641

From reports 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 chanced on anywhere.'-American Scientist

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2. Locations of known TYR gene mutations associated with type I (tyrosinase-deficient) OCA. The blackened box denotes the 529-amino acid tyrosinase polypeptide . The 18-amino acid aminoterminal leader sequence (LS), the two regions of sequence homology with hemocyanins (CuA and CuB), and the transmembrane domain (TM) are indicated. The positions of the four intervening sequences (IVSs) are indicated . Blackened circles indicate the sites of type IA OCA missense substitutions; half blackened circles indicate the sites of type IB OCA missense substitutions; unblackened circles indicate the sites of polymorphic amino acids 192 and 402 .

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. A number of these mutations have been subjected to functional analysis by expression in transfected cells, permitting correlation of the resultant tyrosinase enzymatic activity with the associated clinical phenotypes. , 1991 , 1992a). , 1991c,d; Tripathi et al . , 1991,1992a). In particular, the V275F, P406L, and R422Q missense substitutions , LS CuA TM CuB c N .

1994a). Based on this, we have subsequently identified 22 different additional abnormalities of the P gene in a number of other patients with various forms of type II DCA, including two other patients with type II DCA and PWS (Lee et al. , 1994b,c). As shown in Table III and Fig. 3, these abnormalities include partial gene deletions, two small in-frame deletions, three frameshifts , one splice junction mutation , twelve missense substitutions, and one double missense substitution. Although none of these mutations are strongly predominant, we have observed the V443I substitution in several Caucasian and black patients, suggesting that this may be a relatively prevalent mutant allele .

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


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