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. 1988 Mar;42(3):408–413.

Frequent alterations of visual pigment genes in adrenoleukodystrophy.

P R Aubourg 1, G H Sack Jr 1, H W Moser 1
PMCID: PMC1715151  PMID: 2894755

Abstract

Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alpern M., Lee G. B., Maaseidvaag F., Miller S. S. Colour vision in blue-cone 'monochromacy'. J Physiol. 1971 Jan;212(1):211–233. doi: 10.1113/jphysiol.1971.sp009318. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Aubourg P. R., Sack G. H., Jr, Meyers D. A., Lease J. J., Moser H. W. Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol. 1987 Apr;21(4):349–352. doi: 10.1002/ana.410210406. [DOI] [PubMed] [Google Scholar]
  3. Baron M., Risch N., Hamburger R., Mandel B., Kushner S., Newman M., Drumer D., Belmaker R. H. Genetic linkage between X-chromosome markers and bipolar affective illness. Nature. 1987 Mar 19;326(6110):289–292. doi: 10.1038/326289a0. [DOI] [PubMed] [Google Scholar]
  4. Connor J. M., Gatherer D., Gray F. C., Pirrit L. A., Affara N. A. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet. 1986 Apr;72(4):348–351. doi: 10.1007/BF00290963. [DOI] [PubMed] [Google Scholar]
  5. Kunkel L. M., Hejtmancik J. F., Caskey C. T., Speer A., Monaco A. P., Middlesworth W., Colletti C. A., Bertelson C., Müller U., Bresnan M. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3;322(6074):73–77. doi: 10.1038/322073a0. [DOI] [PubMed] [Google Scholar]
  6. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Maniatis T., Kee S. G., Efstratiadis A., Kafatos F. C. Amplification and characterization of a beta-globin gene synthesized in vitro. Cell. 1976 Jun;8(2):163–182. doi: 10.1016/0092-8674(76)90001-5. [DOI] [PubMed] [Google Scholar]
  8. Migeon B. R., Moser H. W., Moser A. B., Axelman J., Sillence D., Norum R. A. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066–5070. doi: 10.1073/pnas.78.8.5066. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Moser H. W., Moser A. E., Singh I., O'Neill B. P. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol. 1984 Dec;16(6):628–641. doi: 10.1002/ana.410160603. [DOI] [PubMed] [Google Scholar]
  10. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  11. Nathans J., Thomas D., Hogness D. S. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science. 1986 Apr 11;232(4747):193–202. doi: 10.1126/science.2937147. [DOI] [PubMed] [Google Scholar]
  12. PORTER I. H., SCHULZE J., MCKUSICK V. A. Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes. Ann Hum Genet. 1962 Nov;26:107–122. doi: 10.1111/j.1469-1809.1962.tb01316.x. [DOI] [PubMed] [Google Scholar]
  13. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  14. Thomas N. S., Williams H., Elsas L. J., Hopkins L. C., Sarfarazi M., Harper P. S. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet. 1986 Dec;23(6):596–598. doi: 10.1136/jmg.23.6.596. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Yates J. R., Affara N. A., Jamieson D. M., Ferguson-Smith M. A., Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J., Johnston A. W., Kelly K. Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet. 1986 Dec;23(6):587–590. doi: 10.1136/jmg.23.6.587. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Youssoufian H., Antonarakis S. E., Aronis S., Tsiftis G., Phillips D. G., Kazazian H. H., Jr Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci U S A. 1987 Jun;84(11):3772–3776. doi: 10.1073/pnas.84.11.3772. [DOI] [PMC free article] [PubMed] [Google Scholar]

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