Molecular genetics of inherited variation in human color vision

Jeremy Nathans; Thomas P. Piantanida; Roger L. Eddy; Thomas B. Shows; David S. Hogness

doi:10.1126/science.3485310

Molecular genetics of inherited variation in human color vision

Jeremy Nathans, Thomas P. Piantanida, Roger L. Eddy, Thomas B. Shows, David S. Hogness

Research output: Contribution to journal › Article › peer-review

501 Scopus citations

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 doned 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 language	English (US)
Pages (from-to)	203-210
Number of pages	8
Journal	Science
Volume	232
Issue number	4747
DOIs	https://doi.org/10.1126/science.3485310
State	Published - 1986
Externally published	Yes

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title = "Molecular genetics of inherited variation in human color vision",

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 doned 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.",

author = "Jeremy Nathans and Piantanida, {Thomas P.} and Eddy, {Roger L.} and Shows, {Thomas B.} and Hogness, {David S.}",

year = "1986",

doi = "10.1126/science.3485310",

language = "English (US)",

volume = "232",

pages = "203--210",

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AU - Nathans, Jeremy

AU - Piantanida, Thomas P.

AU - Eddy, Roger L.

AU - Shows, Thomas B.

AU - Hogness, David S.

PY - 1986

Y1 - 1986

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AB - 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 doned 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.

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Molecular genetics of inherited variation in human color vision

Abstract

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