ArticleProceedings of the National Academy of Sciences of the United States of America1994
Molecular basis of dark-eyed albinism in the mouse.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of genes related to white and black plumage formation by RNA-Seq from white and black feather bulbs in ducks.PloS one · 2012Article
- Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens.BMC genomics · 2006Article
- The Tyr (albino) locus of the laboratory mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 2004Article
- Sequences associated with human iris pigmentation.Genetics · 2003Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dark-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.
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