Linkage disequilibrium mapping in the Newfoundland population: A re-evaluation of the refinement of the Bardet - Biedl syndrome 1 critical interval

Human Genetics

Volumn 116, Issue 1-2, 2005, Pages 62-71

  Fan, Yanli ^a   Green, Jane S ^b   Ross, Alison J ^c   Beales, Philip L ^c   Parfrey, Patrick S ^b   Davidson, William S ^a  

^a SIMON FRASER UNIVERSITY   (Canada)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BARDET BIEDL SYNDROME; CANADA; CHROMOSOME ANALYSIS; CHROMOSOME MUTATION; CONTROLLED STUDY; FAMILY STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; POPULATION DISTRIBUTION; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; WILD TYPE;

AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETICS, POPULATION; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; NEWFOUNDLAND; PEDIGREE; PROTEINS;

GENETTA;

EID: 11244287206     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1184-9     Document Type: Article

References (62)

1. Arcos-Burgos M, Muenke M (2002) Genetics of population isolates. Clin Genet 61:233-247
2. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet - Biedl syndrome: Results of a population survey. J Med Genet 36:437-446
3. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003) Genetic interqaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet - Biedl syndrome. Am J Hum Genet 72:1187-1199
4. Bear JC, Nemec TF, Kennedy JC, Marshall WH, Power AA, Kolonel VM, Burke GB (1987) Persistent genetic isolation in outport Newfoundland. Am J Hum Genet 27:807-830
5. Bear JC, Nemec TF, Kennedy JC, Marshall WH, Power AA, Kolonel VM, Burke GB (1988) Inbreeding in outport Newfoundland. Am J Med Genet 129:649-660
6. Bhogal AK (2003) Bardet - Biedl syndrome: Molecular genetics of a rare recessive disorder. MSc Thesis, Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby
7. Boccia LM, Green JS, Joyce C, Eng C, Taylor SAM, Mulligan LM (1997) Mutation of RET codon 768 is associated with the FMTC phenotype. Clin Genet 51:81-85
8. de la Chapelle A, Wright FA (1998) Linkage disequilibrium in isolated populations: The example of Finland revisited. Proc Natl Acad Sci USA 95:12416-12423
9. Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warbur M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF (1997) Linkage mapping in 29 Bardet - Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 41:93-99
10. Charles SJ, Green JS, Moore AT, Barton DE, Yates JRW (1993a) Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred. Genomics 16:259-261
11. Charles SJ, Green JS, Grant JW, Yates JRW, Moore AT (1993b) Clinical features of affected males with X linked ocular albinism. Brit J Ophthalmol 77:222-227
12. Compton D (2001) Autosomal dominant polycystic kidney disease in the Newfoundland population. MSc Thesis, Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby
13. Crossey PA, Maher ER, Jones MH, Richards FM, Latif F, Phipps ME, Lush M, Foster K, Tory K, Green JS, Oostra B, Yates JRW, Linehan WM, Affara NA, Lerman M, Zbar B, Nakamura Y, Ferguson-Smith MA (1993) Genetic linkage between Von Hippel-Lindau disease and three microsatellite polymorphisms refines the localization of the VHL locus. Hum Mol Genet 2:279-282
14. Davidson WS (2000) Testing the waters. Biotech Focus 2:13-14
15. Davidson WS, Fan Y, Parfrey PS, Dicks E, Moore S, Green JS (2003) Genetics of Bardet - Biedl syndrome: Obesity and the Newfoundland population. In: Medeiros-Neto G, Halpern A, Bouchard C (eds) Progress in obesity research 9. John Libby Eurotext, Montrouge, pp 324-327
16. Devor EJ, Crawford MH, Koertvelyessy T (1983) Marital structure and genetic heterogeneity of Ramea Island, Newfoundland. Am J Phys Anthropol 61:401-409
17. Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (2004a) Mutations in a member of the ras superfamily of small GTP-binding proteins casues Bardet - Biedl syndrome. Nat Genet 36:989-993
18. Fan Y, Rahman P, Peddle D, Hefferton D, Gladney N, Moore SJ, Green JS, Parfrey PS, Davidson WS (2004b) Bardet- Biedl syndrome 1 genotype and obesity in the Newfoundland population. Int J Obes 28:680-684
19. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N (2002) Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet 70:955-964
20. Froggatt NJ, Green J, Brassett C, Evans DGR, Bishop DT, Kolodner R, Maher ER (1999) A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 36:97-102
21. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Philips W (1989) The cardinal manifestations of Bardet - Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Eng J Med 321:1002-1009
22. Green RC, Green AG, Simms M, Pater A, Robb JD, Green JS (2003) Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. Clin Genet 64:220-227
23. Green JS, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS (2002) The impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 45:1223-1232
24. Gulcher JR, Kong A, Stefansson K (2001) The role of linkage studies for common diseases. Curr Opin Genet Dev 11:264-267
25. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome. New Eng J Med 319:615-618
26. Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
27. Jorde LB (1995) Linkage disequilibrium as a genetic mapping tool. Am J Hum Genet 56:11-14
28. Katsanis N, Lewis RA, Stockton DW, Mai PMT, Baird L, Beales PL, Leppert M, Lupski JR (1999) Delineation of the critical interval of Bardet - Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet 65: 1672-1679
29. Katsanis N, Beales P, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet - Biedl syndrome. Nat Genet 26:67-70
30. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001a) Triallelic inheritance in Bardet - Biedl syndrome, a Mendelian recessive disorder. Science 293:2256-2259
31. Katsanis N, Lupski JR, Beales PL (2001b) Exploring the molecular basis of Bardet - Biedl syndrome. Hum Mol Genet 10:2293-2299
32. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan XY, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RL, Naylor SL, Weissenbach J, Mecklin J-P, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B (1993) Mutations of the mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225
33. Leppert M, Baird L, Anderson KL, Lupski JR, Lewis RA (1994) Bardet - Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet 7:108-112
34. Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovitch TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541-552
35. Mannion JJ (1977) The peopling of Newfoundland: Essays in historical geography. Institute of Social and Economic Research, Memorial University of Newfoundland, St. John's
36. Martin LJ, Crawford MH, Koertvelyessy T, Keeping D, Collins M, Huntsman R (2000) The population structure of ten Newfoundland outports. Hum Biol 72:997-1016
37. Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA (2002) A locus for autosomal dominant hereditary spastic ataxia, SAX1 , maps to chromosome 12p13. Am J Hum Genet 70:763-769
38. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from nucleated cells. Nucleic Acids Res 16:1215
39. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen H, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC (2002) Identification of the gene (BBS1) most commonly involved in Bardet - Biedl syndrome, a complex human obesity syndrome. Nat Genet 31:435-438
40. Mykytyn K, Nishimura DY, Searby CC, Beck JS, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC (2003) Evaluation of complex inheritance involving the most common Bardet - Biedl syndrome locus (BBS1). Am J Hum Genet 72:429-437
41. O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J (1996) The importance of renal impairment in the natural history of Bardet - Biedl syndrome. Am J Kidney Dis 27:776-783
42. Olufemi SE, Green JS, Manickam P, Guru SC, Agarwal SK, Kester MB, Dong Q, Burns AL, Spiegel AM, Marx SJ, Collins FS, Chandrasekharappa SC (1998) Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1 Burin) in four kindreds from Newfoundland. Hum Mutat 11:264-269
43. Parfrey PS, Davidson WS, Green JS (2002) Clinical and genetic epidemiology of inherited renal diseases in Newfoundland. Kidney Int 61:1925-1934
44. Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P (1999) Somatic PKD2 mutations in individual kidney and liver cysts support a two-hit model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Nephrol 10:1524-1529
45. Pei Y, Paterson AD, Wang KR, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P (2001) Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 68:355-363
46. Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin J-P, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A, Vogelstein B (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science 260:810-812
47. Peltonen L (2000) Positional cloning of disease genes: Advantages of genetic isolates. Hum Hered 50:66-75
48. Rahman P, Jones A, Curtis J, Bartlett S, Peddle L, Fernandez BA, Freimer NB (2003a) The Newfoundland population: A unique resource for genetic investigation of complex diseases. Hum Mol Genet 12:R167-R172
49. Rahman P, Bartlett S, Siannis F. Pellett FJ, Farewell VT, Peddle L, Schentag CT, Alderdice CA, Hamilton S, Khraishi M, Tobin Y, Hefferton D, Gladman DD (2003b) CARD15 : A pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 73:677-681
50. Scriver CR (2001) Human genetics: Lessons from Quebec populations. Annu Rev Genomics Hum Genet 2:69-101
51. Service SK, Lang DW, Freimer NB, Sandkuul L (1999) Linkage disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet 64:1728-1738
52. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG (2000) Mutations in MKKS cause Bardet - Biedl syndrome. Nat Genet 26:15-16
53. Spirio L, green J, Robertson J, Robertson M, Otterud B, Sheldon J, Howse E, Green R, Groden J, White R, Leppert M (1999) The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Hum Genet 105:388-398
54. Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y (2000) Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nat Genet 25:143-144
55. Wilkins L (2002) Autosomal recessive polycystic kidney disease in an extended Newfoundland family. MSc Thesis, Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby
56. Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (1999) Genetic heterogeneity of Bardet-Biedl Syndrome in a distinct Canadian population: Evidence for a fifth locus. Genomics 55:2-9
57. Young TL, Woods MO, Parfrey PS, Green JS, O'Leary E, Hefferton D, Davidson W (1998) Canadian Bardet - Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am J Med Genet 78:461-467
58. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (1999a). A fifth locus for Bardet - Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 64:900-904
59. Young TL, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (1999b) A founder effect in the Newfoundland population reduces the Bardet - Biedl syndrome 1 (BBS1) interval to 1cM. Am J Hum Genet 65:1680-1687
60. Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King MC (2001) Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10:2509-2514
61. Zhang Y, McMahon R, Charles SJ, Moore AT, Barton DE, Yates JRW (1993) Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. J Med Genet 30:923-925
62. Zlotogora J (1994) High frequencies of human genetic diseases: Founder effect with genetic drift or selection? Am J Med Genet 49:10-13