000115441 001__ 115441
000115441 005__ 20180317094757.0
000115441 0247_ $$2doi$$a10.1073/pnas.91.11.4756
000115441 022__ $$a0027-8424
000115441 037__ $$aARTICLE
000115441 245__ $$aMolecular basis of dark-eyed albinism in the mouse
000115441 260__ $$c1994
000115441 269__ $$a1994
000115441 336__ $$aJournal Articles
000115441 500__ $$aSwiss Institute for Experimental Cancer Research (ISREC), Epalinges.
000115441 520__ $$aDark-eyed albino (C44H) is a recessive allele at the mouse albino (c) locus, which encodes tyrosinase (monophenol,L-dopa:oxygen oxidoreductase, EC 1.14.18.1), the key enzyme in melanin synthesis. Similar to type IB oculocutaneous albinism in humans, overall production of pigment is greatly reduced in dark-eyed albino mice and obvious only in the eyes. We have studied the molecular basis of the c44H mutation and show that expression of the tyrosinase gene is not affected. After sequencing tyrosinase cDNA isolated from c44H/c44H homozygotes, we uncovered a single base alteration from wild type leading to a serine-to-isoleucine exchange. The importance of this mutation was demonstrated by generating transgenic mice containing a mutated tyrosinase minigene. This showed that the single base change was sufficient to severely depress pigment production in transgenic mice. We therefore conclude that the point mutation is responsible and sufficient to generate the dark-eyed albino phenotype.
000115441 700__ $$aSchmidt, A.
000115441 700__ $$0240256$$aBeermann, F.$$g169239
000115441 773__ $$j91$$k11$$q4756-60$$tProc Natl Acad Sci U S A
000115441 909CO $$ooai:infoscience.tind.io:115441$$particle$$pSV
000115441 909C0 $$0252092$$pGR-BEERMANN$$xU11779
000115441 937__ $$aGR-BEERMANN-ARTICLE-1994-005
000115441 973__ $$aOTHER$$rREVIEWED$$sPUBLISHED
000115441 980__ $$aARTICLE