Molecular genetics of inherited variation in human color vision

Jeremy Nathans, T. P. Piantanida, R. L. Eddy, T. B. Shows, D. S. Hogness

Research output: Contribution to journalArticle

Abstract

The hypothesis that red-green 'color blindness' is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.

Original languageEnglish (US)
Pages (from-to)203-210
Number of pages8
JournalScience
Volume232
Issue number4747
DOIs
Publication statusPublished - 1986
Externally publishedYes

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Cite this

Nathans, J., Piantanida, T. P., Eddy, R. L., Shows, T. B., & Hogness, D. S. (1986). Molecular genetics of inherited variation in human color vision. Science, 232(4747), 203-210. https://doi.org/10.1126/science.3485310