A newly discovered founder population: The Roma/Gypsies

BioEssays

Volumn 27, Issue 10, 2005, Pages 1084-1094

  Kalaydjieva, Luba ^a,d   Morar, Bharti ^a   Chaix, Raphaelle ^b   Tang, Hua ^c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MUSÉE DE L HOMME   (France)

^c Fred Hutchinson Cancer Research Center   (United States)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BOTTLENECK POPULATION; BULGARIA; CULTURAL ANTHROPOLOGY; DEMOGRAPHY; ECONOMICS; EGYPT; EUROPE; EVOLUTION; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENETIC CORRELATION; GENETIC DISORDER; GENETIC DISTANCE; GENETIC VARIABILITY; GIPSY; HUMAN; IDENTITY; INDIA; INHERITANCE; LANGUAGE; METHODOLOGY; POPULATION BIOLOGY; POPULATION GENETICS; PROBABILITY; RELIGION; REVIEW; SOCIOLOGY; ARTICLE; GENETIC MARKER; GENETICS; HAPLOTYPE; MUTATION; Y CHROMOSOME;

MITOCHONDRIAL DNA;

CHROMOSOMES, HUMAN, Y; DNA, MITOCHONDRIAL; EUROPE; FOUNDER EFFECT; GENETIC MARKERS; GENETICS, POPULATION; GYPSIES; HAPLOTYPES; HUMANS; INDIA; MUTATION;

EID: 27744475269     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.20287     Document Type: Review

References (81)

1. Peltonen L, Jalanko A, Varilo T. 1999. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923.
2. Ostrer H. 2001. A genetic profile of contemporary Jewish populations. Nat Rev Genet 2:891-898.
3. Arcos-Burgos M, Muenke M. 2002. Genetics of population isolates. Clin Genet 61:233-247.
4. Sheffield VC, Stone EM, Carmi R. 1998. Use of isolated inbred human populations for identification of disease genes. Trends Genet 14:391-396.
5. Gulcher J, Stefansson K. 1998. Population genomics: laying the ground-work for genetic disease modeling and targeting. Clin Chem Lab Med 36:523-527.
6. Agarwala R, Biesecker LG, Tomlin JF, Schaffer AA. 1999. Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources. Am J Med Genet 86:156-161.
7. Scriver CR. 2001. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2:69-101.
8. Norio R. 2003. Finnish Disease Heritage II: population prehistory and genetic roots of Finns. Hum Genet 112:457-469.
9. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, et al. 1996. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 14:214-217.
10. Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, et al. 1996. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 5:2019-2022.
11. Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, et al. 2000. Hereditary motor and sensory neuropathy-Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromusc Disord 10:584-591.
12. Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horvath R, et al. 1999. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 53:1564-1569.
13. Kalaydjieva L, Gresham D, Calafell F. 2001. Genetic studies of the Roma (Gypsies): a review. BMC Med Genet 2:5.
14. Kruglyak L. 1999. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22:139-144.
15. Wright AF, Carothers AD, Pirastu M. 1999. Population choice in mapping genes for complex diseases. Nat Genet 23:397-404.
16. Peltonen L, Palotie A, Lange K. 2000. Use of population isolates for mapping complex traits. Nat Rev Genet 1:182-190.
17. Shifman S, Darvasi A. 2001. The value of isolated populations. Nat Genet 28:309-310.
18. Heutink P, Oostra BA. 2002. Gene finding in genetically isolated populations. Hum Mol Genet 11:2507-2515.
19. Liegeois J-P. 1994. Roma, Gypsies. Travellers. Strasbourg: Council of Europe Press.
20. Fraser A. 1992. The Gypsies. Oxford: Blackwell Publishers.
21. Marushiakova E, Popov V. 1997. Gypsies (Roma) in Bulgaria. Frankfurt am Main: Peter Lang.
22. Hancock I. 1987. The Pariah Syndrome. Ann Arbor: Karoma Publishers Inc.
23. "Petulengro". 1915-1916. Report on the Gypsy tribes of north-east Bulgaria. J Gypsy Lore Soc 9:1-109.
24. Hancock I. 2000. The emergence of Romani as a koine outside of India. In: Acton T, editor. Scholarship and Gypsy struggle: commitment in Romani studies. Hatfield: University of Hertfordshire Press, p 1-13.
25. Gresham D, Morar B, Underhill PA, Passarino G, Lin AA, et al. 2001. Origins and divergence of the Roma (gypsies). Am J Hum Genet 69:1314-1331.
26. Kalaydjieva L, Calafell F, Jobling MA, Angelicheva D, de Knijff P, et al. 2001. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet 9:97-104.
27. Chaix R. Austerlitz F, Morar B, Kalaydjieva L, Heyer E. 2004. Vlax Roma history: what do coalescent-based methods tell us? Eur J Hum Genet 12:285-292.
28. Zhivotovsky L, Underhill PA, Cinnioglu C, Kayser M, Morar B, et al. 2004. On the effective mutation rate at Y-chromosome STRs with application to human population divergence time. Am J Hum Genet 74:50-61.
29. Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, et al. 2004. Mutation history of the Roma/Gypsies. Am J Hum Genet 75:596-609.
30. Thomas MG, Skorecki K, Ben-Ami H, Parfitt T, Bradman N, et al. 1998. Origins of Old Testament priests. Nature 394:138-140.
31. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, et al. 2000. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 7:47-58.
32. Slatkin M, Bertorelle G. 2001. The use of intraalelic variability for testing neutrality and estimating population growth rate. Genetics 158:865-874.
33. Rosenberg NA, Woolf E, Pritchard JK, Schapp T, Gefel D, et al. 2001. Distinctive genetic signatures in the Libyan Jews. Proc Natl Acad Sci USA 98:858-863.
34. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, et al. 2000. Y-chromosome diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67:1526-1543.
35. Varon R, Gooding R, Steglich C, Marns L, Tang H, et al. 2003. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35:185-189.
36. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, et al. 1999. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 65:1299-1307.
37. Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, et al. 2002. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res 51: 602-606.
38. Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, et al. 2000. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet 67:664-671.
39. Goto E, Rodriguez J, Jeck N, Alvarez V, Stone R, et al. 2004. A new mutation (intron 9+ 1G > T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 65:25-29.
40. Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, et al. 2003. Spectrum of CLN6 mutations in Variant late infantile neuronal ceroid lipofuscinosis. Hum Mut 22:35-42.
41. Plasilova M, Stoilov I, Srafarazi M, Kadasi L, Ferakava E, et al. 1999. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 36: 290-294.
42. de la Salle C, Schwartz A, Baas M-J, Lanza F, Cazenave J-P. 1995. Detection by PCR and Hphl restriction analysis of a splice site mutation at the 5′ end of intron 15 of the platele GPIIb (IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area. Thromb Haemost 74:990-991.
43. Mitui M, Campbell C, Coutinho G, Sun X, Lai C-H, et al. 2003. Independent mutational events are rare in the ATM gene: haplotype pre-screening enhances mutation detection rate. Hum Mut 22:43-50.
44. Casanha P, Martinez F, Haya S, Lorenzo JI, Espinos C, et al. 2000. 01311X: a novel missense mutation of putative ancient origin in the von Willebrand factor gene. Br J Haematol 111:552-555.
45. Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, et al. 2001. Familial CD8 deficiency due to a mutation in the CD8α gene. J Clin Invest 108:117-123.
46. Romero NB, Barois A, Leroy J-P, Durling H, Fardeaux M, et al. 2003. Homozygous nonsense mutation of the ACTA1 gene-clinical phenotype and muscle pathology. Neuromuscul Disord 13:619.
47. Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, et al. 1997. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61:547-555.
48. Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, et al. 2004. Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin EndocrinMetab 89:1747-1752.
49. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, et al. 2002. Genetic structure of human populations. Science 298:2381-2385.
50. Merlini L, Kaplan J-C, Navarro C, Barois A, Bonneau D, et al. 2000. Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology 54:1075-1079.
51. Y chromosome Consortium. 2002. A nomenclature system for the tree of human Y chromosomal binary haplogroups. Genome Res 12:339-348.
52. Wallace DC, Lott MT. 2004. "MITOMAP: A Human Mitochondrial Genome Database" http://www.mitomap.org/.
53. Basu A, Mukherjee N, Roy S, Sengupta S, Banerjee S, et al. 2003. Ethnic India: a genomic view, with special reference to peopling and structure. Genome Res 13:2277-2290.
54. Cinnioglu C, King R, Kivisild T, Kalfoglu E, Atasoy S, et al. 2004. Excavating Y-chromosome haplotype strata in Anatolia. Hum Genet 114: 127-148.
55. Cordaux R, Aunger R, Bentley G, Nasidze I, Sirajuddin SM, et al. 2004. Independent origins of Indian caste and tribal paternal lineages. Curr Biol 14:231-235.
56. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, et al. 1999. Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334.
57. Kivisild T, Rootsi S, Metspalu M, Mastana S, Kaldma K, et al. 2003. The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am J Hum Genet 72:313-332.
58. Nasidze I, Ling EY, Quinque D, Dupanloup I, Cordaux R, et al. 2004. Mitochondrial DNA and Y-chromosome variation in the Caucasus. Ann Hum Genet 68:205-221.
59. Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, et al. 2000. The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155-1159.
60. Torroni A, Bandelt HJ, D'Urbano L, Lahermo P, Moral P, et al. 1998. mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62:1137-1152.
61. Torroni A, Richards M, Macaulay V, Forster P, Villems R, et al. 2000. mtDNA haplogroups and frequency patterns in Europe. Am J Hum Genet 66:1173-1177.
62. Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, et al. 2001. The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci USA 98:10244-10249.
63. Belledi M, Poloni ES, Casalotti R, Conterio F, Mikerezi I, et al. 2000. Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations. Eur J Hum Genet 8:480-486.
64. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, et al. 1995. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet 59:63-81.
65. Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L. 1996. From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks. Ann Hum Genet 60:35-49.
66. Comas D, Calafell F, Bendukidze N, Fananas L, Bertranpetit J. 2000. Georgian and Kurd mtDNA sequence analysis shows a lack of correlation between languages and female genetic lineages. Am J Phys Anthropol 112:115-116.
67. Cordaux R, Saha N, Bentley GR, Aunger R, Sirajuddin SM, et al. 2003. Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur J Hum Genet 11:253-264.
68. Corte-Real HB, Macaulay VA, Richards MB, Hariti G, Issad MS, et al. 1996. Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet 60:331-350.
69. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, et al. 1997. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6:1835-1846.
70. Horai S, Hayasaka K. 1990. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet 46:828-842.
71. Mountain JL, Hebert JM, Bhattacharyya S, Underhill PA, Ottolenghi C, et al. 1995. Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet 56:979-992.
72. Nasidze I, Stoneking M. 2001. Mitochondrial DNA variation and language replacements in the Caucasus. Proc R See Lond B Biol Sci 268:1197-1206.
73. Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, et al. 2004. Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 74:827-845.
74. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, et al. 2000. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251-1276.
75. Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, et al. 1995. Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 5:42-52.
76. Jobling MA, Bouzekri N, Taylor PG. 1998. Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet 7:643-653.
77. Schneider S, Roessli D, Excoffier L. 2000. Arlequin ver. 2.0: A software for population genetic data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland.
78. Tang H, Siegmund DO, Shen P, Oefner PJ, Feldman MW. 2002. Frequentist estimation of coalescence times from nucleotide sequence data using a tree-based partition. Genetics 161:447-459.
79. Wilson IJ, Balding DJ. 1998. Genealogical inference from microsatellite data. Genetics 150:499-510.
80. Rannala B, Slatkin M. 1998. Likelihood analysis of disequilibrium mapping, and related problems. Am J Hum Genet 62:459-473.
81. Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.