Investigator, Howard Hughes Medical Institute Professor of Molecular Biology and Genetics, Neuroscience, & Ophthalmology The Johns Hopkins School of Medicine

Contact Information:

805 PCTB
Department of Molecular Biology and Genetics
Johns Hopkins University School of Medicine
725 North Wolfe Street
Baltimore, Maryland 21205

Phone: 410-955-4679
Fax: 410-614-0827
E-mail: jnathans@jhmi.edu

Education:

• Massachusetts Institute of Technology, B.S.: Life Sciences, B.S.: Chemistry, 1979
• Stanford University School of Medicine, Ph.D.: Biochemistry (with David Hogness), 1985
• Stanford University School of Medicine, M.D., 1987
• Postdoctoral Fellow, Genentech, Inc. (with Axel Ullrich), 1987

Professional Experience:

• Assistant Professor, Department of Molecular Biology and Genetics, Department of Neuroscience, Johns Hopkins University School of Medicine,1988-1992
• Assistant Investigator, Howard Hughes Medical Institute, 1988-1992
• Associate Professor, Department of Molecular Biology and Genetics, Department of Neuroscience, Johns Hopkins University School of Medicine,1992-1996
• Associate Investigator, Howard Hughes Medical Institute, 1992-1996
• Associate Professor, Department of Ophthalmology, Johns Hopkins University School of Medicine, 1993-1996
• Professor, Department of Molecular Biology and Genetics, Department of Neuroscience, Department of Ophthalmology
• Johns Hopkins University School of Medicine, 1996-present
• Investigator, Howard Hughes Medical Institute, 1997-present

Professional Activities:

• Member, Association for Research in Vision and Ophthalmology, 1993-present
• Scientific Advisory Board, Zanvil Kreiger Mind-Brain Institute, JHU, 1991-1992
• Scientific Advisory Board, The Foundation Fighting Blindness, 1995-present
• Scientific Advisory Board, Merck Research Laboratories, Merck & Co., 1996-present
• Scientific Advisory Board, The Ruth and Milton Steinbach Fund, 1997-present
• Intramural Program Review Committee, National Eye Institute, N.I.H., 1997-1998

Honors and Awards:

• John Asinari Award for undergraduate research in the life sciences, M.I.T., 1978
• Alpha Chi Sigma Award for Excellence in Chemistry, M.I.T., 1979
• Newcomb-Cleveland Prize, American Association for the Advancement of Science, 1986
• Young Scientist Award, Passano Foundation, 1987
• Initiatives in Research Award, National Academy of Sciences, U.S.A. 1987
• Rank Prize in Opto-Electronics, Rank Prize Fund (London), 1988
• Wilson S. Stone Memorial Award, University of Texas M.D. Anderson Cancer Center, 1988
• Distinguished Young Scientist Award, Maryland Academy of Sciences, 1989
• Golden Brain Award, Minerva Foundation, 1989
• Cogan Award, The Association for Research in Vision and Ophthalmology, 1992
• Alcon Research Institute Award for Vision Research, Alcon Laboratories,1992
• Young Investigator Award, Society for Neuroscience, 1995
• Member, National Academy of Sciences, U.S.A., 1996

Editorial Activities:

• Associate Editor, Journal of Neuroscience, 1991-1996
• Editorial Board, Proceedings of the National Academy of Sciences, U.S.A., 1999-present

Named or Honorary Lectures:

• Juan March Lecture, Juan March Foundation, Madrid, 1991
• Fourth W.S. Stiles Lecture, University College, London, 1992
• First Walter Sondheim Lecture, Columbus Center, Baltimore, 1996
• Jack Schultz Memorial Lecture, Fox Chase Cancer Center, 1996
• Holiday Lectures (with A. J. Hudspeth), Howard Hughes Medical Institute, 1997

Patents:

1. United States Patents Nos. 5,693,775 (issued 12/2/97) and 5,872,226 (issued 2/16/99). Fibroblast growth factor homologous factor-1 (FHF-1) and methods of use. Inventors: Nathans, J., Smallwood, P.M., and Macke, J.P.
2. United States Patent No. 5,876,967 (issued 3/2/99). Fibroblast growth factor homologous factor-2 (FHF-2) and methods of use. Inventors: Nathans, J., Smallwood, P.M., and Macke, J.P.

Research Publications:

1. Wang, A., Nathans, J., Van Der Marel, G., Van Boom, J.H., and Rich, A. (1978) Molecular structure of a double helical DNA fragment intercalator complex between deoxy CpG and a terpyridine platinum compound. Nature 276: 471Ð474.
2. Kronenberg, H.M., McDevitt, B.E., Majzoub, J.A., Nathans, J., Sharp, P., Potts, J.T., and Rich, A. (1979) Cloning and nucleotide sequence of DNA coding for bovine preproparathyroid hormone. Proceedings of the National Academy of Sciences USA 76: 4981-4986.
3. Nathans, J. and Hogness, D.S. (1983) Isolation, sequence analysis, and intron-exon arrangement of the gene encoding bovine rhodopsin. Cell 34: 807-814.
4. Nathans, J. and Hogness, D.S. (1984) Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proceedings of the National Academy of Sciences USA 81: 4851-4855.
5. Nathans, J., Thomas, D., and Hogness, D.S. (1986) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232: 193-202.
6. Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B., and Hogness, D.S. (1986) Molecular genetics of inherited variation in human color vision. Science 232: 203-210.
7. Vollrath, D., Nathans, J., and Davis, R.W. (1988) Tandem array of human visual pigment genes at Xq28. Science 240: 1669-1671.
8. Nathans, J., Weitz, C.J., Agarwal, N., Nir, I., and Papermaster, D.S. (1989) Production of bovine rhodopsin by mammalian cell lines expressing cloned cDNA: spectrophotometry and subcellular localization. Vision Research 29: 907-914.
9. 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., and Fishman, G. (1989) Molecular genetics of human blue cone monochromacy. Science 245: 831-838.
10. Nathans, J. (1990) Determinants of visual pigment absorbance: the role of charged amino acids in the putative transmembrane segments. Biochemistry 29: 937-942.
11. Nathans, J. (1990) Determinants of visual pigment absorbance: identification of the retinylidene Schiff's base counterion in bovine rhodopsin. Biochemistry 29: 9746-9752.
12. Zack, D.J., Bennett, J., Wang, Y., Davenport, C., Klaunberg, B., Gearhart, J., and Nathans, J. (1991) Unusual topography of bovine rhodopsin promoter-lacZ fusion gene expression in transgenic mouse retinas. Neuron 6: 187-199.
13. Sung, C.-H., Davenport, C.M., Hennessey, J.C., Maumenee, I.H., Jacobson, S.G., Heckenlively, J.R., Nowakowski, R., Fishman, G., Gouras, P., and Nathans, J. (1991) Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 88: 6481-6485.
14. Sung, C.-H., Schneider, B.G., Agarwal, N. Papermaster, D.S., and Nathans, J. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 88: 8840-8844.
15. Jacobson, S.G., Kemp, C.M., Sung, C.-H., and Nathans, J. (1991) Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. American Journal of Ophthalmology 112: 256-271.
16. Weitz, C.J., Miyake, Y., Shinzato, K., Montag, E., Zrenner, E., Went, L.N., and Nathans, J. (1992) Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. American Journal of Human Genetics 50: 498-507.
17. Kemp, C.M., Jacobson, S.G., Roman, A.J., Sung, C.-H., and Nathans, J. (1992) Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. American Journal of Ophthalmology 113: 165-174.
18. Merbs, S.L. and Nathans, J. (1992) Absorption spectra of human cone pigments. Nature 356: 433-435.
19. Weitz, C.J. and Nathans, J. (1992) Histidine residues regulate the transition of photoexcited rhodopsin to its active conformation, metarhodopsin II. Neuron 8: 465-472.
20. Wang, S.-Z., Adler, R. and Nathans, J. (1992) A visual pigment from chicken that resembles rhodopsin: amino acid sequence, gene structure, and functional expression. Biochemistry 31: 3309-3315.
21. Dhallan, R.S., Macke, J., Eddy, R.L., Shows, T.B., Reed, R.R., Yau, K.-W., and Nathans, J. (1992) Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. Journal of Neuroscience 12: 3248-3256.
22. Weitz, C.J., Went, L.N. and Nathans, J. (1992) Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment gene. American Journal of Human Genetics 51: 444-446.
23. Merbs, S.L. and Nathans, J. (1992) Photobleaching difference absorption spectra of human cone pigments: quantitative analysis and comparison to other methods. Photochemistry and Photobiology 56: 869-881.
24. Wang, Y., Macke, J. P., Merbs, S. L., Klaunberg, B., Bennett, J., Zack, D., Gearhart, J., and Nathans, J. (1992) A locus control region adjacent to the human red and green pigment genes. Neuron 9: 429-440.
25. Merbs, S.L. and Nathans, J. (1992) Absorption spectra of the hybrid pigments responsible for anomalous color vision. Science 258: 464-466.
26. Borjigin, J. and Nathans, J. (1993) Bovine pancreatic trypsin inhibitor (BPTI) - trypsin complex as a detection system for recombinant proteins. Proceedings of the National Academy of Sciences USA 90: 337-341.
27. Johnson, R.L., Grant, K.B., Zankel, T.C., Boehm, M.F., Merbs, S.L., Nathans, J., and Nakanishi, K. (1993) Cloning and expression of goldfish opsin sequences. Biochemistry 32: 208-214.
28. Macke, J.P., Davenport, C.M., Jacobson, S.G., Hennessey, J.C., Gonzalez-Fernandez, F., Conway, B.P., Heckenlively, J., Palmer, R., Maumenee, I.H., Sieving, P., Gouras, P., Good, W., and Nathans, J. (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. American Journal of Human Genetics 53: 80-89.
29. Macke, J. P., Hu, N., Hu, S., Bailey, M., King, V.L., Brown, T., Hamer, D., and Nathans, J. (1993) Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. American Journal of Human Genetics 53: 844-852.
30. Merbs, S. L. and Nathans, J. (1993) Role of hydroxyl-bearing amino acids in differentially tuning the absorption spectra of the human red and green cone pigments. Photochemistry and Photobiology 58: 706-710.
31. Nathans, J., Maumenee, I.H., Zrenner, E., Sadowski, B., Sharpe, L.T., Lewis, R.A., Hansen, E., Rosenberg, T., Schwartz, M., Heckenlively, J.R., Traboulsi, E., Klingaman, R., Bech-Hansen, N.T., LaRoche, G.R., Pagon, R.A., Murphey, W.H., and Weleber, R.G. (1993) Genetic heterogeneity among blue cone monochromats. American Journal of Human Genetics 53: 987-1000.
32. Xiang, M., Zhou, L., Peng, Y.-W., Eddy, R.L., Shows, T.B., and Nathans, J. (1993) Brn-3b: a POU-domain protein expressed in a subset of retinal ganglion cells. Neuron 11: 689-701.
33. Sung, C.-H., Davenport, C. M., and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. Journal of Biological Chemistry 268: 26645-26649.
34. Weitz, C. and Nathans, J. (1993) Rhodopsin activation: the effects on the metarhodopsin I - metarhodopsin II equilibrium of neutralization or introduction of charged amino acids within putative transmembrane segments. Biochemistry 32: 14176-14182.
35. Portera-Cailliau, C., Sung, C.-H., Nathans, J., and Adler, R. (1994) Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 91: 974-978.
36. Jacobson, S.G., Kemp, C.M., Cideciyan, A.V., Macke, J.P., Sung, C.-H., and Nathans, J. (1994) Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Investigative Ophthalmology and Visual Science 35: 2521-2534.
37. Chiu, M.I. and Nathans, J. (1994) Blue cones and cone bipolar cells share transcriptional specificity as determined by expression of human blue visual pigment-derived transgenes. Journal of Neuroscience 14: 3426-3436.
38. Chiu, M.I. and Nathans, J. (1994) A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas. Visual Neuroscience 11: 773-780.
39. Rosas, D.J., Roman, A.J., Weissbrod, P., Macke, J.P., and Nathans, J. (1994) Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Investigative Ophthalmology and Visual Science 35: 3134-3144.
40. Borjigin, J. and Nathans, J. (1994) Insertional mutagenesis as a probe of rhodopsinÕs topography, stability, and activity. Journal of Biological Chemistry 269: 14715-14722.
41. Chiu, M.I., Zack, D.J., Wang, Y. and Nathans, J. (1994) Murine and bovine blue pigment genes: cloning and characterization of two new members of the S family of visual pigments. Genomics 21: 440-443.
42. Sung, C.-H., Makino, C., Baylor, D., and Nathans, J. (1994) A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. Journal of Neuroscience 14: 5818-5833.
43. Macke, J.P., Hennessey, J.C., and Nathans, J. (1995) Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Human Molecular Genetics 4: 775-776.
44. Xiang, M., Zhou, L., Macke, J.P., Yoshioka, T., Hendry, S.H.C., Eddy, R.L., Shows, T.B., and Nathans, J. (1995) The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons. Journal of Neuroscience 15: 4762-4785.
45. Wang, Y., Macke, J.P., Abella, B.S., Andreasson, K., Worley, P., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1996) A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled. Journal of Biological Chemistry 271: 4468-4476.
46. Zhou, H., Yoshioka, T., and Nathans, J. (1996) RPF-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells. Journal of Neuroscience 16: 2261-2274.
47. Gan, L., Xiang, M., Zhou, L.,Wagner, D.S., Klein, W.H., and Nathans, J. (1996) The POU domain factor Brn-3b is required for the development of a large set of retinal ganglion cells. Proceedings of the National Academy of Sciences USA 93: 3920-3925.
48. Xiang, M., Zhou, L., and Nathans, J. (1996) Similarities and differences among inner retinal neurons revealed by the expression of reporter transgenes under the control of Brn-3a, Brn-3b, and Brn-3c promotor sequences. Visual Neuroscience 13: 955-962.
49. Bhanot, P., Brink, M., Harryman Samos, C., Hsieh, J.-C., Wang, Y., Macke, J.P., Andrew, D., Nathans, J., and Nusse, R. (1996) A new member of the frizzled family from Drosophila functions as a Wingless receptor. Nature 382: 225-230.
50. Smallwood, P.M., Munoz-Sanjuan, I., Tong, P., Macke, J.P., Hendry, S.H.C., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1996) Fibroblast growth factor homologous factors (FHFs): new members of the FGF family implicated in nervous system development. Proceedings of the National Academy of Sciences USA 93: 9850-9857.
51. Xiang, M., Gan, L., Zhou, L., Klein, W.H., and Nathans, J. (1996) Targeted deletion of the mouse POU domain gene Brn-3a causes a selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling. Proceedings of the National Academy of Sciences USA 93: 11950-11955.
52. Margolis, R.L., Stine, O.C., McInnes, M.G., Ranen, N.G., Rubinsztein, D.C., Leggo, J., Brando, L.V.J., Kidwai, A.S., Loev, S.J., Breschel, T.S., Callahan, C, Simpson, S.G., DePaulo, J.R., McMahon, F.J., Jain, S., Paykel, E.S., Walsh, C., DeLisi, L.E., Crow, T.J., Torrey, E.F., Ashworth, R.G., Macke, J.P., Nathans, J., and Ross, C.A. (1996) cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Human Molecular Genetics 5: 607-616.
53. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A, Chidambaram, A., Gerrard, B., Baird, l., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M. and Lupski, J.R. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt's macular dystrophy. Nature Genetics 15: 236-246.
54. He, X., Saint-Jeannet, J.-P., Wang, Y., Nathans, J., Dawid, I., and Varmus, R. (1997) A member of the Frizzled protein family mediating axis induction by Wnt-5A. Science 275: 1652-1654.
55. Rattner, A.,Hsieh, J.-C., Smallwood, P.M., Debra J. Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1997) A family of secreted proteins containing homology to the cysteine-rich ligand-binding domain of frizzled receptors. Proceedings of the National Academy of Sciences USA 94: 2859-2863.
56. Macke, J.P. and Nathans, J. (1997) Individual variation in the size of the human red and green pigment gene array. Investigative Ophthalmology and Visual Science 38: 1040-1043.
57. Sun, H., Macke, J.P., and Nathans, J. (1997) Mechanisms of spectral tuning in the mouse green cone pigment. Proceedings of the National Academy of Sciences USA 94: 8860-8865.
58. Xiang, M., Gan, L., Li, D., Chen, Z.-Y., Zhou, L., O'Malley, B.W., Klein, W., and Nathans, J. (1997) Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proceedings of the National Academy of Sciences USA 94: 9445-9450.
59. Sun, H. and Nathans, J. (1997) Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genetics 17: 15-16.
60. Sun, H., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1997) Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium. Proceedings of the National Academy of Sciences USA 94: 9893-9898.
61. Sherman, P.M., Sun, H., Macke, J.P., Williams, J., Smallwood, P.M., and Nathans, J. (1997) Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C (rdgC). Proceedings of the National Academy of Sciences USA 94: 11639-11644.
62. Allikmets, R., Wasserman, W.W., Hutchinson, A., Smallwood, P., Nathans, J., Rogan, P., Schneider, T.D., and Dean, M. (1998) Organization of the ABCR gene: analysis of promotor and splice site mutations. Gene 215: 111-122.
63. Soucy, E. Wang, Y., Nirenberg, S., Nathans, J. and Meister, M. (1998) A novel signaling pathway from rod photoreceptors to ganglion cells in mammalian retina. Neuron 21: 481-493.
64. Sharpe, L.T., Stockman, A., Jagle, H., Knau, H., Klausen, G., Reitner, A., and Nathans, J. (1998) Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically-measured spectral sensitivities. Journal of Neuroscience 18: 10053-10069.
65. Munoz-Sanjuan, I., Simandl, B.K., Fallon, J.F., and Nathans, J. (1999) Expression of chicken fibroblast growth factor homologous factor-1 (FHF-1) and of differentially spliced isoforms of FHF-2 during development and involvement of FHF-2 in chicken limb development. Development 126: 409-421.
66. Sun, H., Molday, R. S., and Nathans, J. (1999) Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ABC transporter responsible for Stargardt disease. Journal of Biological Chemistry 274: 8269-8281.
67. Stockman, A., Sharpe, L.T., Jagle, H., Knau, H., and Nathans, J. (1999) L, M, and L-M hybrid cone photopigments in man: deriving lambda max's from flicker photometric spectral sensitivities. Vision Research 39: 3513-3525.
68. Hsieh, J.-C., Rattner, A., Smallwood, P.M., and Nathans, J. (1999) Biochemical characterization of Wnt-Frizzled interactions using a soluble, biologically active vertebrate Wnt protein. Proceedings of the National Academy of Sciences USA 96: 3546-3551.
69. Hsieh, J.-C., Kodjabachian, L., Rebbert, M., Rattner, A., Smallwood, P.M., Harryman Samos, C., Nusse, R., Dawid, I., and Nathans, J. (1999) A new secreted protein that binds to Wnt proteins and inhibits their activities. Nature 398: 431-436.
70. Wang, Y., Smallwood, P. M., Cowan, M., Blesh, D., Lawler, A., and Nathans, J. (1999) Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors. Proceedings of the National Academy of Sciences USA 96: 5251-5256.
71. Bhanot, P., Fish, M., Jemison, J., Nusse, R., Nathans, J., and Cadigan, K.M. (1999) Frizzled and frizzled-2 function as redundant receptors for Wingless during Drosophila embryonic development. Development 126: 4175-4186.
72. Munoz-Sanjuan, I., Smallwood, P.M., and Nathans, J. (2000) Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promotor usage and differential splicing. Journal of Biological Chemistry, in press.
73. Rattner, A., Smallwood, P.M., and Nathans, J. (2000) Identification and characterization of all-trans retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans retinal to all-trans retinol. Journal of Biological Chemistry, submitted.

Review Articles and Book Chapters:

1. Piantanida, T.P. and Nathans, J. (1987) Molecular genetics of human color vision polymorphism. in Frontiers of Visual Science: Proceedings of the 1985 Symposium. pp 145-149. (National Academy of Sciences Press).
2. Nathans, J. (1987) Molecular biology of visual pigments. Annual Reviews of Neuroscience 10: 163-194.
3. Nathans, J. (1989) The genes for color vision. Scientific American 260: 42-49.
4. Nathans, J. (1990) Protein-chromophore interactions in rhodopsin studied by site-directed mutagenesis. Cold Spring Harbor Symposium on Quantitative Biology 55: 621-633.
5. Nathans, J. (1992) Rhodopsin: structure, function, and genetics. Biochemistry 31: 4923-4931.
6. Nathans, J., Sung, C.-H., Weitz, C.J., Davenport, C.M., Merbs, S.L., and Wang, Y. (1992) Visual pigments and inherited variation in human vision. Journal of General Physiology 47: 110-131.
7. Nathans, J., Merbs, S. L., Sung, C.-H., Weitz, C. J., and Wang, Y. (1992) Molecular genetics of human visual pigments. Annual Reviews of Genetics 26: 401-422.
8. Nathans, J. (1994) In the eye of the beholder: visual pigments and inherited variation in human vision. Cell 78: 357-360.
9. Jacobson, S.J., Kemp, C., Cideciyan, A.V., and Nathans, J. (1995) Rhodopsin gene mutations causing retinitis pigmentosa: functional phenotypes of codon 23 and codon 135 genotypes. in Basic and Clinical Perspectives in Vision Research. pp 53-62. J. Robbins, ed. (Plenum Press).
10. Xiang, M., Zhou, H., and Nathans, J. (1996) Molecular biology of retinal ganglion cells. Proceedings of the National Academy of Sciences USA 93: 596-601.
11. Xiang, M., Gan, L., Li, D., Zhou, L., Chen, Z.-Y., Wagner, D., O'Malley, B.W., Klein, W., and Nathans, J. (1997) Role of the Brn-3 family of POU-domain genes in the development of the auditory/vestibular, somatosensory, and visual systems. Cold Spring Harbor Symposium on Quantitative Biology 62: 325-336.
12. Sharpe, L.T., Stockman, A., Jagle, H., and Nathans, J. (1999) Opsin genes, cone photopigments, color vision, and color blindness. in Color Vision: from Genes to Perception. pp 3-51. K. Gegenfurtner, L.T. Sharpe, eds. (Cambridge University Press).
13. Rattner, A., Sun, H., and Nathans, J. (1999) Molecular genetics of human retinal disease. Annual Reviews of Genetics, in press.
14. Nathans, J. (1999) The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments. Neuron 24: 299-312.
15. Stockman, A., Sharpe, L.T., Merbs, S. L., and Nathans, J. (2000) Spectral sensitivities of human cone pigments determined in vivo and in vitro. in Methods in Enzymology: Vertebrate Phototransduction and the Visual Cycle. K. Palczewski, ed. (Academic Press), in press.
16. Sun, H. and Nathans, J. (2000) ABCR, the rod photoreceptor-specific ABC transporter responsible for Stargardt disease. in Methods in Enzymology: Vertebrate Phototransduction and the Visual Cycle. K. Palczewski, ed. (Academic Press), in press.