A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q

Twin Research

Volumn 7, Issue 2, 2004, Pages 197-210

  Zhu, Gu ^a   Evans, David M ^a   Duffy, David L ^a   Montgomery, Grant W ^a   Medland, Sarah E ^a   Gillespie, Nathan A ^a   Ewen, Kelly R ^b   Jewell, Mary ^c   Liew, Yew Wah ^d   Hayward, Nicholas K ^a   Sturm, Richard A ^e   Trent, Jeffrey M ^f,g   Martin, Nicholas G ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b Australian Genome Research Facility Ltd   (Australia)

^c Center for Inherited Diseases Res   (United States)

^d AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f NATIONAL CANCER INSTITUTE   (United States)

^g TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUSTRALIA; CHROMOSOME 15Q; CHROMOSOME 17; CHROMOSOME 18; CHROMOSOME 2; CHROMOSOME 3; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 8; EPISTASIS; EYE COLOR; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; NORMAL HUMAN; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RATING SCALE; SIBLING; TELOMERE; TWINS; VARIANCE;

CHROMOSOMES, HUMAN, PAIR 15; EYE COLOR; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; QUANTITATIVE TRAIT LOCI; TWINS; VARIATION (GENETICS);

CORYLUS AMERICANA;

EID: 11144355855     PISSN: 13690523     EISSN: None     Source Type: Journal    
DOI: 10.1375/136905204323016186     Document Type: Article

References (69)

1. Abecasis, G. R., Cherny, S. S., Cookson, W. O., & Cardon, L. R. (2001a). GRR: Graphical representation of relationship errors. Bioinformatics, 17, 742-743.
2. Abecasis, G. R., Cherny, S. S., & Cardon, L. R. (2001b). The impact of genotyping error on family-based analysis of quantitative traits. European Journal of Human Genetics, 9, 130-134.
3. Abecasis, G. R., Cherny, S. S., Cookson, W. O., & Cardon, L. R. (2002). Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees. Nature Genetics, 30, 97-101.
4. Aitken, J. F., Pfitzner, J., Battistutta, D., O'Rourke, P. K., Green, A. C., & Martin, N. G. (1996). Reliability of computer image analysis of pigmented skin lesions of Australian adolescents. Cancer, 78, 252-257.
5. Akey, J. M., Wang, H., Xiong, M., Wu, H., Liu., W., Shriver, M. D., et al. (2001). Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Human Genetics, 108, 516-520.
6. Almasy, L., & Blangero, J. (1998). Multipoint quantitative-trait linkage analysis in general pedigrees. American Journal of Human Genetics, 62, 1198-1211.
7. Amos, C.I. (1994). Robust variance-components approach for assessing genetic linkage in pedigrees. American Journal of Human Genetics, 54, 535-543.
8. Ancans, J., Flanagan, N., Hoogduijn, M. J., & Thody, A. J. (2003). P-locus is a target for the melanogenic effects of MC-1R signaling: A possible control point for facultative pigmentation. Annals of the New York Academy of Sciences, 994, 373-377.
9. Attwood, L. D., & Heard-Costa, N. L. (2003). Limits of fine mapping a quantitative trait. Genetic Epidemiology, 24, 99-106.
10. Bennett, D. C., & Lamoreux, M. L. (2003). The color loci of mice - A genetic century. Pigment Cell Research, 16, 333-344.
11. Boehnke, M., & Cox, N. J. (1997). Accurate inference of relationships in sib-pair linkage studies. American Journal of Human Genetics, 61, 423-429
12. Boissy, R. E. (1998). Extracutaneous melanocytes. In J. J. Nordlund et al. (Ed.), The pigmentary system; Physiology and pathophysiology. New York: Oxford University Press.
13. Boissy, R. E., & Nordlund, J. J. (1997). Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Research, 10, 12-24.
14. Brilliant, M. H. (2001). The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Research, 14, 86-93.
15. Chen, K., Manga, P., & Orlow, S. J. (2002). Pink-eyed dilution protein controls the processing of tyrosinase. Molecular Biology of the Cell, 13, 1953-1964.
16. Davenport, G. C., & Davenport, C. B. (1907). Heredity of eye-color in man. Science, 26, 590-592.
17. Davis, S., & Weeks, D. E. (1997). Comparison of non-parametric statistics for detection of linkage in nuclear families: Single-marker evaluation. American Journal of Human Genetics, 61, 1431-1444.
18. Douglas, J. A., Boehnke, M., & Lange, K. (2000). A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data. American Journal of Human Genetics, 66, 1287-1297.
19. Duffy, D. L. (2002). Sib-pair version 0.99.9 [Computer program]. Brisbane, Australia: Queensland Institute of Medical Research.
20. Duffy, D. L., Box, N. F., Chen, W., Palmer, J. S., Montgomery, G. W., James, M. R., et al. (in press). Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Human Molecular Genetics.
21. Duggirala, R., Williams, J. T., Williams-Blangero, S., & Blangero J. (1997). A variance component approach to dichotomous trait linkage analysis using a threshold model. Genetic Epidemiology, 14, 987-992.
22. Eagle, R. C., Jr. (1988). Iris pigmentation and pigmented lesions: An ultrastructural study. Transactions of the American Ophthalmological Society, 86, 581-687.
23. Eaves, L. J., Neale, M. C., & Maes, H. (1996). Multivariate multipoint linkage analysis of quantitative trait loci. Behavior Genetics, 26, 519-525.
24. Eiberg, H., & Mohr, J. (1987). Major genes of eye colour and hair colour linked to LU and SE. Clinical Genetics, 31, 186-191.
25. Eiberg, H., & Mohr, J. (1996). Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. European Journal of Human Genetics, 4, 237-241.
26. Epstein, M. P., Duren, W. L., & Boehnke, M. (2000). Improved inference of relationship for pairs of individuals. American Journal of Human Genetics, 67, 1219-1231.
27. Ewen, K. R., Bahlo, M., Treloar, S. A., Levinson, D. F, Mowry, B., Barlow, J. W., et al. (2000). Identification and analysis of error types in high-throughput genotyping. American Journal of Human Genetics, 67, 727-736.
28. Fulker, D. W., & Cherny, S. S. (1996). An improved multipoint sib-pair analysis of quantitative traits. Behavior Genetics, 26, 527-532.
29. Gudbjartsson, D. F., Jonasson, K., Frigge, M. L., & Kong, A. (2000). Allegro, a new computer program for multipoint linkage analysis. Nature Genetics, 25, 12-13.
30. Hasstedt, S. J. (1995). Phenotypic assortative mating in segregation analysis. Genetic Epidemiology, 12, 109-127.
31. Imesch, P. D., Bindley, C. D., Khademian, Z., Ladd, B., Gangnon, R., Albert, D. M., et al. (1996). Melanocytes and iris color. Electron microscopic findings. Archives of Ophthalmology, 114, 443-447.
32. Jackson, I. J. (1997). Homologous pigmentation mutations in human, mouse and other model organisms. Human Molecular Genetics, 6, 1613-1624.
33. Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., et al. (2000). Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Human Mutation, 15, 166-172.
34. Kong, A., Gudbjartsson, D. F., Sainz, J., Jonsdottir, G. M., Gudjonsson, S. A., Richardsson, B., et al. (2002). A high-resolution recombination map of the human genome. Nature Genetics, 31, 241-247.
35. Kushimoto, T., Valencia, J. C., Costin, G. E., Toyofuku, K., Watabe, H., Yasumoto, K., et al. (2003). The melanosome: An ideal model to study cellular differentiation. Pigment Cell Research, 16, 237-244.
36. Lange, K., Westlake, J., & Spence, M. A. (1976). Extensions to pedigree analysis. III. Variance components by the scoring method. Annals of Human Genetics, 39, 485-491.
37. Lange, K., Cantor, R., Horvath, S., Perola, M., Sabatti, C., Sinsheimer, J., et al. (2001). Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. American Journal of Human Genetics, 69 (Supplement), A1886.
38. Larsson, M., Pedersen, N. L., & Stattin, H. (2003). Importance of genetic effects for characteristics of the human iris. Twin Research, 6, 192-200.
39. Lathrop, G. M., Lalouel, J. M., Julier, C., & Ott, J. (1984). Strategies for multilocus linkage analysis in humans. Proceedings of the National Academy of Science USA, 81, 3443-3446.
40. Leal, S. M. (2003). Genetic maps of microsatellite and single-nucleotide polymorphism markers: Are the distances accurate? Genetic Epidemiology, 24, 243-252.
41. Lee, S. T., Nicholls, R. D., Jong, M. T., Fukai, K., & Spritz, R. A. (1995). Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics, 26, 354-363.
42. Lynch, M., & Walsh, B. (1998). Genetics and analysis of quantitative traits. Sunderland, MA: Sinauer Associates.
43. Manga, P., Boissy, R. E., Pifko-Hirst, S., Zhou, B. K., & Orlow, S. J. (2001). Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. Experimental Eye Research, 72, 695-710.
44. Marks, M. S., & Seabra, M. C. (2001). The melanosome: Membrane dynamics in black and white. Nature Reviews: Molecular Cell Biology, 2, 738-748.
45. Martin, N. G., Eaves, L. J., Kearsey, M. J., & Davies P. (1977). The power of the classical twin study. Heredity, 40, 97-116.
46. Mather, K. (1974). Non-allelic interaction in continuous variation of randomly breeding populations. Heredity, 32, 414-419.
47. McGregor, B., Pfitzner, J., Zhu, G., Grace, M., Eldridge, A., Pearson, J., et al. (1999). Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins. Genetic Epidemiology, 16, 40-53.
48. Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
49. Neale, M. C., Boker, S. M., Xie, G., & Maes, H. H. (2002). Mx: Statistical Modeling (6th ed.). Richmond, VA: Department of Psychiatry.
50. Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., et al. (2001). Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics, 69, 981-988.
51. Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., et al. (2002). P gene as an inherited biomarker of human eye color. Cancer Epidemiology and Biomarkers Prevention, 11, 782-784.
52. Roberts, S. B., MacLean, C. J., Neale, M. C., Eaves, L. J., & Kendler, K. S. (1999). Replication of linkage studies of complex traits: An examination of variation in location estimates. American Journal of Human Genetics, 65, 876-884.
53. Robins, A. H. (1991). Biological perspectives on human pigmentation. Cambridge, England; New York: Cambridge University Press.
54. Self, S. G., & Liang, K. (1987). Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions. Journal of the American Statistical Association, 82, 605-610.
55. Sobel, E., Papp, J. C., & Lange, K. (2002). Detection and integration of genotyping errors in statistical genetics. American Journal of Human Genetics, 70, 496-508.
56. Spritz, R. A., Chiang, P. W., Oiso, N., & Alkhateeb, A. (2003). Human and mouse disorders of pigmentation. Current Opinion in Genetics and Development, 13, 284-289.
57. Staleva, L., Manga, P., & Orlow, S. J. (2002). Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism. Molecular Biology of the Cell, 13, 4206-4220.
58. Sturm, R. A., Box, N. F., & Ramsay, M. (1998). Human pigmentation genetics: The difference is only skin deep. Bioessays, 20, 712-721.
59. Sturm, R. A., Teasdale, R. D., & Box, N. F. (2001). Human pigmentation genes: Identification, structure and consequences of polymorphic variation. Gene, 277, 49-62.
60. Sunderland, E. (1956). Hair-colour variation in the United Kingdom. Annals of Human Genetics, 20, 312-333.
61. Swank, R. T., Novak, E. K., McGarry, M. P., Zhang, Y., Li, W., Zhang, Q., et al. (2000). Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Research, 13(Supplement 8), 59-67.
62. Thody, A. J., & Graham, A. (1998). Does alpha-MSH have a role in regulating skin pigmentation in humans? Pigment Cell Research, 11, 265-274.
63. Tiwari, H. K., & Elston, R. C. (1997). Linkage of multilocus components of variance to polymorphic markers. Annals of Human Genetics, 61, 253-261.
64. Toyofuku, K., Valencia, J. C., Kushimoto, T., Costin, G. E., Virador, V. M., Vieira, W. D., et al. (2002). The etiology of oculocutaneous albinism (OCA) type II: The pink protein modulates the processing and transport of tyrosinase. Pigment Cell Research, 15, 217-224.
65. Weeks, D. E., Conley, Y. P., Ferrell, R. E., Mah, T. S., & Gorin, M. B. (2002). A tale of two genotypes: Consistency between two high-throughput genotyping centers. Genome Research, 12, 430-435.
66. Wilkerson, C. L., Syed, N. A., Fisher, M. R., Robinson, N. L., Wallow, I. H., & Albert, D. M. (1996). Melanocytes and iris color. Light microscopic findings. Archives of Ophthalmology, 114, 437-442.
67. Williams, J. T., & Blangero, J. (1999). Comparison of variance components and sibpair-based approaches to quantitative trait linkage analysis in unselected samples. Genetic Epidemiology, 16, 113-134.
68. Wright, M., de Geus, E., Ando, J., Luciano, M., Posthuma, D., Ono, Y., et al. (2001). Genetics of cognition: Outline of a collaborative twin study. Twin Research, 4, 48-56.
69. Zhu, G., Duffy, D. L., Eldridge, A., Grace, M., Mayne, C., O'Gorman, L., et al. (1999). A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: A maximum-likelihood combined linkage and association analysis in twins and their sibs. American Journal of Human Genetics, 65, 483-492.