SNP discovery and haplotype analysis in the segmentally duplicated DRD5 coding region

Annals of Human Genetics

Volumn 73, Issue 3, 2009, Pages 274-282

  Housley, Donna J E ^a   Nikolas, Molly ^b   Venta, Patrick J ^a   Jernigan, Kathrine A ^a   Waldman, Irwin D ^c   Nigg, Joel T ^b   Friderici, Karen H ^a  

^a Michigan State University ^*  (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c EMORY UNIVERSITY   (United States)

Author keywords

ADHD; Behavior; Dopamine receptor; Genomicre arrangement; Paralogous sequence variant; Segmental duplication

Indexed keywords

DOPAMINE 5 RECEPTOR; GENOMIC DNA;

AMPLICON; ARTICLE; CONTROLLED STUDY; ETHNICITY; GENE AMPLIFICATION; GENE DUPLICATION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CHROMOSOME MAPPING; GENE DUPLICATION; GENETIC TECHNIQUES; HAPLOTYPES; HUMANS; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; RECEPTORS, DOPAMINE D5; TRIPLETS;

EID: 65449187118     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00513.x     Document Type: Article

References (32)

1. Altschul, S. F., Gish, W., Miller, W., Myers, E. W. & Lipman, D. J. (1990) Basic local alignment search tool. J Mol Biol 215, 403-410.
2. Asherson, P., Mant, R., Williams, N., Cardno, A., Jones, L., Murphy, K., Collier, D. A., Nanko, S., Craddock, N., Morris, S., Muir, W., Blackwood, B., McGuffin, P. & Owen, M. J. (1998) A study of chromosome 4p markers and dopamine D5 receptor gene in schizophrenia and bipolar disorder. Mol Psychiatry 3, 310-320.
3. Barr, C. L., Xu, C., Kroft, J., Feng, Y., Wigg, K., Zai, G., Tannock, R., Schachar, R., Malone, M., Roberts, W., Nothen, M. M., Grunhage, F., Vandenbergh, D. J., Uhl, G., Sunohara, G., King, N. & Kennedy, J. L. (2001) Haplotype study of three polymorphisms at the dopamine transporter locus confirm linkage to attention-deficit/hyperactivity disorder. Biol Psychiatry 49, 333-339.
4. Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265.
5. Beischlag, T. V., Marchese, A., Meador-Woodruff, J. H., Damask, S. P., O'Dowd, B. F., Tyndale, R. F., van Tol, H. H., Seeman, P. & Niznik, H. B. (1995) The human dopamine D5 receptor gene: Cloning and characterization of the 5′-flanking and promoter region. Biochemistry 34, 5960-5970.
6. Belotserkovskii, B. P. & Johnston, B. H. (1997) Denaturation and association of DNA sequences by certain polypropylene surfaces. Anal Biochem 251, 251-262.
7. Cheung, J., Estivill, X., Khaja, R., MacDonald, J. R., Lau, K., Tsui, L. C. & Scherer, S. W. (2003) Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 4, R25.
8. Daly, G., Hawi, Z., Fitzgerald, M. & Gill, M. (1999) Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parental alleles at DAT1, DBH and DRD5 to affected children. Mol Psychiatry 4, 192-196.
9. Eubanks, J. H., Altherr, M., Wagner-McPherson, C., McPherson, J. D., Wasmuth, J. J. & Evans, G. A. (1992) Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus. Genomics 12, 510-516.
10. Feng, J., Sobell, J. L., Heston, L. L., Cook, E. H., Jr., Goldman, D. & Sommer, S. S. (1998) Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid. Am J Med Genet 81, 172-178.
11. Gingrich, J. A. & Caron, M. G. (1993) Recent advances in the molecular biology of dopamine receptors. Annu Rev Neurosci 16, 299-321.
12. Grandy, D. K., Zhang, Y. A., Bouvier, C., Zhou, Q. Y., Johnson, R. A., Allen, L., Buck, K., Bunzow, J. R., Salon, J. & Civelli, O. (1991) Multiple human D5 dopamine receptor genes: A functional receptor and two pseudogenes. Proc Natl Acad Sci U.S.A 88, 9175-9179.
13. Hawi, Z., Lowe, N., Kirley, A., Gruenhage, F., Nothen, M., Greenwood, T., Kelsoe, J., Fitzgerald, M. & Gill, M. (2003) Linkage disequilibrium mapping at DAT1, DRD5 and DBH narrows the search for ADHD susceptibility alleles at these loci. Mol Psychiatry 8, 299-308.
14. Horvath, J. E., Gulden, C. L., Vallente, R. U., Eichler, M. Y., Ventura, M., McPherson, J. D., Graves, T. A., Wilson, R. K., Schwartz, S., Rocchi, M. & Eichler, E. E. (2005) Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res 15, 914-927.
15. Kent, W. J. (2002) BLAT-the BLAST-like alignment tool. Genome Res 12, 656-664.
16. Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M. & Haussler, D. (2002) The human genome browser at UCSC. Genome Res 12, 996-1006.
17. Lowe, N., Kirley, A., Hawi, Z., Sham, P., Wickham, H., Kratochvil, C. J., Smith, S. D., Lee, S. Y., Levy, F., Kent, L., Middle, F., Rohde, L. A., Roman, T., Tahir, E., Yazgan, Y., Asherson, P., Mill, J., Thapar, A., Payton, A., Todd, R. D., Stephens, T., Ebstein, R. P., Manor, I., Barr, C. L., Wigg, K. G., Sinke, R. J., Buitelaar, J. K., Smalley, S. L., Nelson, S. F., Biederman, J., Faraone, S. V. & Gill, M. (2004) Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. Am.J Hum.Genet 74, 348-356.
18. Marchese, A., Beischlag, T. V., Nguyen, T., Niznik, H. B., Weinshank, R. L., George, S. R. & O'Dowd, B. F. (1995) Two gene duplication events in the human and primate dopamine D5 receptor gene family. Gene 154, 153-158.
19. Meulenbelt, I., Droog, S., Trommelen, G. J., Boomsma, D. I. & Slagboom, P. E. (1995) High-yield noninvasive human genomic DNA isolation method for genetic studies in geographically dispersed families and populations. Am J Hum Genet 57, 1252-1254.
20. Mill, J., Curran, S., Richards, S., Taylor, E. & Asherson P. (2004) Polymorphisms in the dopamine D5 receptor (DRD5) gene and ADHD. Am J Med Genet B Neuropsychiatr Genet 125B, 38-42.
21. Misbahuddin, A., Placzek, M. R., Chaudhuri, K. R., Wood, N. W., Bhatia, K. P. & Warner, T. T. (2002) A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 58, 124-126.
22. Muir, W. J., Thomson, M. L., McKeon, P., Mynett-Johnson, L., Whitton, C., Evans, K. L., Porteous, D. J. & Blackwood, D. H. (2001) Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorder. Am J Med Genet 105, 152-158.
23. Placzek, M. R., Misbahuddin, A., Chaudhuri, K. R., Wood, N. W., Bhatia, K.P. & Warner, T. T. (2001) Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J Neurol Neurosurg Psychiatry 71, 262-264.
24. Rozen, S. & Skaletsky, H. (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132, 365-386.
25. Shepherd, A. G., Lea, R. A., Hutchins, C., Jordan, K. L., Brimage, P. J. & Griffiths, L. R. (2002) Dopamine receptor genes and migraine with and without aura: An association study. Headache 42, 346-351.
26. Sobell, J. L., Lind, T. J., Sigurdson, D. C., Zald, D. H., Snitz, B. E., Grove, W. M., Heston, L. L. & Sommer, S. S. (1995) The D5 dopamine receptor gene in schizophrenia: Identification of a nonsense change and multiple missense changes but lack of association with disease. Hum Mol Genet 4, 507-514.
27. Sullivan, P. F., Neale, M. C., Silverman, M. A., Harris-Kerr, C., Myakishev, M. V., Wormley, B., Webb, B. T., Ma, Y., Kendler, K. S., & Straub, R. E. (2001) An association study of DRD5 with smoking initiation and progression to nicotine dependence. Am J Med Genet 105, 259-265.
28. Sunahara, R. K., Guan, H. C., O'Dowd, B. F., Seeman, P., Laurier, L. G., Ng, G., George, S. R., Torchia, J., Van Tol, H. H. & Niznik, H. B. (1991) Cloning of the gene for a human dopamine D5 receptor with higher affinity for dopamine than D1. Nature 350, 614-619.
29. Svaren, J., Inagami, S., Lovegren, E. & Chalkley, R. (1987) DNA denatures upon drying after ethanol precipitation. Nucleic Acids Res 15, 8739-8754.
30. Vanyukov, M. M., Moss, H. B., Gioio, A. E., Hughes, H. B., Kaplan, B. B. & Tarter, R. E. (1998) An association between a microsatellite polymorphism at the DRD5 gene and the liability to substance abuse: pilot study. Behav Genet 28, 75-82.
31. Williams, N. M., Cardno, A. G., Murphy, K. C., Jones, L. A., Asherson, P., McGuffin, P. & Owen, M. J. (1997) Association between schizophrenia and a microsatellite polymorphism at the dopamine D5 receptor gene. Psychiatr Genet 7, 83-85.
32. Wong, A. H., Buckle, C. E. & Van Tol, H. H. (2000) Polymorphisms in dopamine receptors: What do they tell us? Eur J Pharmacol 410, 183-203.