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Molecular Genetics of Human Blue Cone Monochromacy

Nathans, Jeremy, Davenport, Carol M., Maumenee, Irene H., Lewis, Richard Alan, Hejtmancik, J. Fielding, Litt, Michael, Lovrien, Everett, Weleber, Richard, Bachynski, Brian, Zwas, Fred, Klingaman, Roger, Fishman, Gerald·1989·Science
DOI 10.1126/science.2788922
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Abstract

Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities. In 12 of 12 families carrying this trait, alterations are observed in the red and green visual pigment gene cluster. The alterations fall into two classes. One class arose from the wild type by a two-step pathway consisting of unequal homologous recombination and point mutation. The second class arose by nonhomologous deletion of genomic DNA adjacent to the red and green pigment gene cluster. These deletions define a 579-base pair region that is located 4 kilobases upstream of the red pigment gene and 43 kilobases upstream of the nearest green pigment gene; this 579-base pair region is essential for the activity of both pigment genes.

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Authors
Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., Klingaman, R., & Fishman, G.
Affiliations
  • Department of Molecular Biology and Genetics and the Department of Neuroscience, Howard Hughes Medical Institute.
  • Wilmer Ophthalmologic Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
  • Cullen Eye Institute, the Department of Ophthalmology, and the Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
  • Howard Hughes Medical Institute and the Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030. .
  • Department of Biochemistry, Oregon Health Sciences University, Portland, OR 97201.
  • Department of Medical Genetics, Oregon Health Sciences University, Portland, OR 97201.
  • Department of Ophthalmology, Henry Ford Hospital, Detroit, MI 48202.
  • Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201.
  • Department of Biomedical Sciences, Southern College of Optometry, Memphis, TN 38104.
  • Department of Ophthalmology, University of Illinois College of Medicine, Chicago, IL 60612.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1989-08-25
Volume
245
Issue
4920
Pages
831-838
ISSN
  • 0036-8075
  • 1095-9203
DOI
10.1126/science.2788922
Cited by
255
References
0
Language
en

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CoChat. (2026). Citation check: Molecular Genetics of Human Blue Cone Monochromacy. https://app.cochat.ai/papers/10.1126/science.2788922
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Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., Klingaman, R., & Fishman, G. (1989). Molecular Genetics of Human Blue Cone Monochromacy. Science. https://doi.org/10.1126/science.2788922