Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future

American Journal of Medical Genetics, Part A

Volumn 149, Issue 11, 2009, Pages 2602-2611

  Erickson, Robert P ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

Apaches; Athabaskans; Bottlenecks; Native Americans; Navajos

Indexed keywords

MITOCHONDRIAL DNA; THIOSULFATE SULFURTRANSFERASE;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; DYSOSTOSIS; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HUMAN; HYPOVENTILATION; MENTAL DEFICIENCY; METACHROMATIC LEUKODYSTROPHY; METHEMOGLOBINEMIA; MICROCEPHALY; MIGRATION; OCULOCUTANEOUS ALBINISM; POIKILODERMA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SUDDEN INFANT DEATH SYNDROME; UNITED STATES; XERODERMA PIGMENTOSUM; Y CHROMOSOME;

DISEASE; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; HUMANS; INDIANS, NORTH AMERICAN; SOUTHWESTERN UNITED STATES; SPECIES SPECIFICITY; TRANSCRIPTION FACTORS;

EID: 70449338108     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33052     Document Type: Review

References (95)

1. Amiel J, Salomon R, Attié T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S. 1998. Mutations of the RET-GDNF signalling pathway in Odine's curse. Am J Hum Genet 62:715-717. (Pubitemid 28164631)
2. Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. 2003. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459-461. (Pubitemid 36390004)
3. Appenzeller O, Kornfeld M, Snyder R. 1976. Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children. Arch Neurol 33:733-738.
4. Balsamo P, Hardy WR, Scott EM. 1964. Hereditary methemoglobinemia due to diaphorase deficiency in Navajo Indians. J Pediatr 65:928-931.
5. Bolk S, Angrist M, Xie J, Yanagisawa M, Sivestri JM, Weese-Mayer DE, Chakravarti A. 1996. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat Genet 13:395-396. (Pubitemid 26256610)
6. Bortolini M-C, Salzano FM, Thomas MG, Stuart S, Nasanen SPK, Bau CHD, Hutz MH, Layrisse Z, Petzl-Erler ML, Tsuneto LT, Hill K, Hurtado AM, Castro-de-Guerra D, Torres MM, Groot H, Michalski R, Nymadawa P, Bedoya G, Bradman N, Labuda D, Ruiz-Linares A. 2003. Y-chromosome evidence for differing ancient demographic histories in the Americas. Am J Hum Genet 73:524-539. (Pubitemid 37076267)
7. Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. 2007. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 18:1245-1253. (Pubitemid 47429025)
8. Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. 2008. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet Part A 146A:1235-1240.
9. Cavalli-Sforza LL, Menozzi P, Piazza A. 1994. The history and geography of human genes. Princeton: Princeton University Press.
10. Chisaka O, Cappecchi MR. 1991. Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox X gene HOX-1.5. Nature 350:473-479. (Pubitemid 21912252)
11. Clericuzio C, Hoyme HE, Aase JM. 1991. Immune deficient poikiloderma: A new genodermatosis. Am J Hum Genet 49:A661.
12. Davidson GP, Cutz E, Hamilton JR, Gall DG. 1978. Familial enteropathy: A syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology 75:783-790. (Pubitemid 9059984)
13. De La Chapelle A, Wright FA. 1998. Linkage disequilibrium mapping in isolated populations: The example of Finland revisited. Proc Natl Acad Sci USA 95:12416-12423. (Pubitemid 28483780)
14. De Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. 2003. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet 12: 3173-3180. (Pubitemid 37508888)
15. Erickson RP. 1999. Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1:151-157.
16. Erickson RP, Bodensteiner JB. 2007. Oro-facial-digital syndrome IX with severe microcephaly: A new variant in a genetically isolated population. Am J Med Genet Part A 143A:3309-3313.
17. Erickson RP, Larson-Thomé K, Valenzuela RK, Whitaker SE, Shub MD. 2008. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am J Med Genet Part A 146A:3117-3119.
18. Fagundes NJR, Kanitz R, Eckert R, Valls ACS, Bogo MR, Salazano FM, Smith DG, Silva WA Jr, Zago MA, Ribeiro-dos-Santos AK, Santos SE, Petzl-Erler ML, Bonatto SL. 2008. Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas. Am J Hum Genet 82:583-592.
19. Fernandez-Cobo M, Agostini HT, Britez G, Ryschkewitsch CF, Stoner GL. 2002. Strains of JC virus in Amerind-speakers of North America (Salish) and South America (Guarani), Na-Dene-speakers of New Mexico (Navajo), and modern Japanese suggest links through an ancestral Asian population. Am J Phys Anthropol 118:154-168. (Pubitemid 34521287)
20. Galeeva NM, Nazarenko LP, Nazarenko SA, Tverskaya SM, Polyakov AV. 2006. Molecular-genetic cause of recessive congenital methemoglobinemia type I in Yakutia. Med Genet 5:15-20.
21. Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. 2004. Genetics and early disturbances of breathing control. Pediatr Res 55:729-733. (Pubitemid 38520436)
22. Goebel T, Waters MR, O'Rourke DH.2008. The late Pleistocene dispersal of modern humans in the Americas. Science 319:1497-1502.
23. Greenberg JH. 1960. The general classification of Central and South American languages. In: Wallace AFC, editor. Selected Papers of the Fifth International Congress of Anthropological Sciences, Philadelphia, September 1-6, 1956. Philadelphia: University of Pennsylvania Press; pp. 791-794.
24. Greenberg JH, Turner CG II, Zegura SL. 1986. The settlement of the Americas: A comparison of the linguistic, dental, and genetic evidence. Curr Anthropol 27:477-497.
25. Groisman GM, Ofer B, Schwersenz A, Berant M, Fyfe B. 1993. The value of polyclonal carcinoembryonic antigen immunostaining in the diagnosis of microvillous inclusion disease. Hum Pathol 24:1232-1237. (Pubitemid 23352334)
26. Gurrieri F, Sammito V, Ricci B, Lossa M, Bellussim A, Neri G. 1992. Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII). Am J Med Genet 42:789-792.
27. Holve S, Hu D, Shub M, Tyson W, Sokol RJ. 1999. Liver disease in Navajo neuropathy. J Pediatr 135:482-493.
28. Holve S, Hu D, McCandless SE. 2001. Metachromatic leukodystrophy in the Navajo: Fallout of the American-Indian wars of the nineteenth century. Am J Med Genet 101:203-208. (Pubitemid 32565695)
29. Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff CC. 2003. Athabascan brainstem dysgenesis syndrome. Am J Med Genet Part A 120A:169-173.
30. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. 2000. Discovery of allelic variants of HOXA1 and HOX B1: Genetic susceptibility to autism spectrum disorders. Teratology 62:393-405.
31. Jones JF, Ritenbaugh CK, Spence MA, Hayward A. 1991. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Hum Biol 63:669-682.
32. Kardimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzil C, Johnsen SD, Kurth J, Eggers El, Palenzuela L, Tanji K, Bonilla E, DeVivo DC, DiMauro S, Hirano M. 2006. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 79:544-548. (Pubitemid 44384263)
33. Knoell KA, Sidhu-Malik NK, Malik RK. 1999. Aplastic anemia in a patient with Rothmund-Thomson syndrome. J Pediatr Hematol Oncol 21: 444-446. (Pubitemid 30306019)
34. Krauss ME. 1979. Na-Dene. In: Native languages of the Americas. Sebeok TA, ed. New York: Plenum Press. p 283-358.
35. Lell JT, Sukernik RI, Starikovskaya YB, Su B, Jin L, Schurr TG, Underhill PA, Wallace DC. 2002. The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet 70:192-206. (Pubitemid 34031708)
36. Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H, Cowan MJ. 1998. The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. Am J Hum Genet 62:136-144. (Pubitemid 28093843)
37. Li L, Despina M, Zhou Y, Wang J, Xie G, Salido E, Hu D, de Villartay J-P, Cowan MJ. 2002a. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol 168:6323-6329. (Pubitemid 34620054)
38. Li L, Zhou Y, Wang J, Hu D, Cowan MJ. 2002b. Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease. Prenat Diagn 22:763-768.
39. Lufkin T, Dierich A, LeMeur M, Mark M, Chambon P. 1991. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell 66:1105-1119. (Pubitemid 121001401)
40. Michail S, Collins JF, Xu H, Kaufman S, Vanderhoof J, Ghishan FK. 1998. Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 27:536-542. (Pubitemid 28492253)
41. Moscoso J, Seclen S, Serrano-Vela JI, Villena A, Martinez-Laso J, Zamoraa J, Moreno A, Ira-Cachafeiro J, Arnaiz-Villena A. 2006. HLAgenes in Lamas Peruvian-Amazonian Amerindians. Mol Immunol 43:1881-1889.
42. Moscoso J, Crawford MH, Vicario JL, Zlojutro M, Serrano-Vela JI, Reguera R, Arnaiz-Villena A. 2008. HLAgenes of Aleutian Islanders living between Alaska (USA) and Kamchatka (Russia) suggest a possible southern Siberia origin. Mol Immunol 45:1018-1026. (Pubitemid 350016332)
43. Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Phillipe N, Fischer A, de Villartay JP. 2001. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177-186.
44. Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taieb A. 2008. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet Part A 21A:2762-2769.
45. Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. 2008. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 40:1163-1165.
46. Murphy S, Hayward A, Troup G, Devor E, Coons T. 1980. Gene enrichment in an American Indian population: An excess of severe combined immunodeficiency disease. Lancet 2:502-505. (Pubitemid 10035393)
47. Nazarenko LP, Sazhenova EA, Nazarenko SA, Banschikova ES. 2003. A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the Yakut population. Genetika 39: 715-718. (Pubitemid 39572045)
48. O'Marcaig AS, Puck JM, Pepper AE, De Santes K, Cowan MJ. 1997. Maternal mosaicism for a novel interleukin-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency in Navajo kindred. J Clin Immunol 17:29-33. (Pubitemid 27083452)
49. O'Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, Cowan MJ. 2001. Bone marrow transplantation for T-B-severe combined im munodeficiency disease in Athabascan-speaking Native Americans. Bone Marrow Transplant 27:703-709. (Pubitemid 32409444)
50. Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA. 1994. Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene. Hum Mutat 4:199-207. (Pubitemid 24319488)
51. Pastor-Soler NM, Schertz EM, Rafi MA, de Gala G, Wenger DA. 1995. Metachromatic leukodystrophy among southern Alaskan Eskimos: Molecular and genetic studies. J Inherit Metab Dis 18:326-332.
52. Phillips AD, Schmitz J. 1992. Familial microvillous atrophy: A clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 14:380-396.
53. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA. 1985. Congenital microvillous atrophy: Specific diagnostic features. Arch Dis Child 60: 134-140. (Pubitemid 15085048)
54. Pohl JF, Shub MD, Trevelline EE, Ingebo K, Silber G, Rayhorn N, Holve S, Hu D. 1999. A cluster of microvillous inclusion disease in the Navajo population. J Pediatr 134:103-106. (Pubitemid 29048688)
55. Porter WM, Hardman CM, Abdalla SH, Powless AV. 1999. Haematological disease in siblings with Rothmund-Thomson syndrome. Clin Exp Dermatol 24:452-454.
56. Puck JM. 2007. Neonatal screening for severe combined immune deficiency. Curr Opin Allergy Clin Immunol 7:522-527. (Pubitemid 350076448)
57. Rizzari C, Bacchiocchi D, Rovelli A, Biondi A, Cantu'-Rajnoldi A, Underzo C, Masera G. 1996. Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report. J Pediatr Hematol Oncol 18:96-97.
58. Rotbart HA, Levin MJ, Jones JF, Hayward AR, Allan J, McLane MF, Essex M. 1986. Noma in children with severe combined immunodeficiency. J Pediatr 109:596-600.
59. Rubicz R, Melvin KL, Crawford MH. 2002. Genetic evidence for the phylogenetic relationship between Na-Dene and Yeniseian speakers. Hum Biol 74:743-760. (Pubitemid 36236861)
60. Rubin P. 2004. Indian givers the Havasupai trusted the white man to help with a diabetes epidemic. Instead, ASU tricked them into bleeding for academia. Phoenix New Times, May 27, Available from http://www. phoenixnewtimes.com/2004- 05-27/news/indigan-givers/.
61. Ruhlen M. 1998. The origin of the Na-Dene. Proc Natl Acad Sci USA 95:13994-13996.
62. Saillard J, Forster P, Lynnerup N, Bandelt H-J, Norby S. 2000. mtDNA variation among Greenland Eskimos: The edge of the Beringian expansion. Am J Hum Genet 67:718-726. (Pubitemid 30659601)
63. Santos BA. 2008. Genetic research in native communities. Prog Commun Health Partnerships Res Educ Action 2:321-327.
64. Sapir E. 1929. Central and North American languages. In: Garvin JL, Hooper FH, editors. Encyclopedia Britannica, 14th edition. London and New York: Encyclopedia Britannica; p. 139.
65. Sato T, Mushiake S, Kato Y, Sato M, Takeda N, Ozono K, Miki K, Kubo Y, Tsuji A, Harada R, Harada A. 2007. The Rab8 GTPase regulates apical protein localization in intestinal cells. Nature 448:366-369. (Pubitemid 47080335)
66. Schurr TG, Sherry ST. 2004. Mitochondrial DNA and Y chromosome diversity and the peopling of the Americas: Evolutionary and demographic evidence. Am J Hum Biol 16:420-439.
67. Scott EM. 1960. The relation of diaphorase of human erythrocytes to inheritance of methemoglobinemia. J Clin Invest 39:1176-1179.
68. Scott EM, Wright RC. 1980. Genetic polymorphism of rhodanese from human erythrocytes. Am J Hum Genet 32:112-114. (Pubitemid 10151019)
69. Scott EM, Lewis M, Kaita H, Chown B, Giblett E. 1963. The absence of close linkage of methemoglobinemia and blood group loci. Am J Hum Genet 15:493-494.
70. Shirasawa S, Arata A, Onimaru H, Roth KA, Brown GA, Horning S, Arata S, Okumura K, Sasuzuki T, Korsmeyer SJ. 2000. Rnx deficiency results in congenital hypoventilation. Nat Genet 24:287-290. (Pubitemid 30132200)
71. Singleton R, Helgerson SD, Snyder RD, O'Conner PJ, Nelson S, Johnsen SD, Allanson JE. 1990. Neuropathy in Navajo children: Clinical and epidemiologic features. Neurology 40:363-367. (Pubitemid 20099458)
72. Snyder RD, Appenzeller O, Johnson PC. 1988. Infantile onset and late central white matter lesions in Navajo neuropathy. Ann Neurol 24:327.
73. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. 2006. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38:570-575.
74. Spinazzola A, Massa V, Hirano M, Zeviani M. 2008. Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. Neuomuscul Disord 18: 315-318.
75. Stone AC, Stoneking M. 1998. mtDNA analysis of a prehistoric Oneota population: Implications for the peopling of the new world. Am J Hum Genet 62:1153-1170. (Pubitemid 28199018)
76. Tamm E, Kivislid T, Reida M, Metspalu M, Smith DG, Mulligan CJ, Bravi CM, Rickards O, Martinez-Labarga C, Khusnutdinova EK, Fedorova SA, Golubenko MV, Stepanov VA, Gubina MA, Zhadanov SI, Ossipova LP, Damba L, Voevoda MI, Dipierri JE, Villems R, Malhi RS. 2007. Beringian standstill and spread of Native America founders. PLoS One 2:e829.
77. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. 2005. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37:1035-1037. (Pubitemid 41486652)
78. Torroni A, Schurr TG, Yang C-C, Szathmary EJE, Williams RC, Schanfield MS, Troup GA, Knowler WC, Lawrence DN, Weiss KM, Wallace DC. 1992. Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 130:153-162.
79. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC. 1993. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53:563-590. (Pubitemid 23304131)
80. Vajda E. 2009. A Siberian link to the Na-Dene. Anthropological Papers of the University of Alaska, Vol.6 (in press).
81. van Hove JL, Grunewald S, Minner K, van Geet C, Matthijs G. 2000. Navajo poikiloderma with cyclic neutropenia in Turkish children, clinical description and exclusion of linkage to the Rothmund-Thomson RECQL4 gene. Am J Hum Genet 67:A634.
82. van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai JL, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. 2006. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43: 148-152. (Pubitemid 43259628)
83. van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EAM, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M. 2008. Gross deletions involving IGHM, BTK, or Artemis:Amodel for genomic lesions mediated by transposable elements. Am J Med Genet 82:320-332. (Pubitemid 351726105)
84. Volodko NV, Starikovskaya EB, Mazunin IO, Eltsov NP, Naidenko PV, Wallace DC, Sukernik RI. 2008. Mitochondrial genome diversity in arctic Siberians with particular reference to the evolutionary history of Beringia and Pleistocenic peopling the Americas. Am J Hum Genet 82: 1084-1100.
85. Vu TH, Tanji K, Holve SA, Bonilla E, Sokol RJ, Snyder RD, Fiore S, Deutsch GH, DiMauro S, De Vivo D. 2001. Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? Hepatology 34:116-120.
86. Wang LL, Gannavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE. 2003. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet Part A 118A: 299-301.
87. Weese-Mayer DE, Bok S, Silvestri JM, Chakravarti A. 2002. Idiopathic congenital central hypoventilation syndrome: Evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. Am J Med Genet 107:306-310. (Pubitemid 34062083)
88. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. 2003. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet Part A 123A:267-278. (Pubitemid 37464346)
89. Williams J. 1992. The long walk. In: Trails of tears: American Indians driven from their lands. Dallas: Hendrick-Long Publishing Co.; pp. 101-146.
90. Wilson JAP. 2008. A new perspective on later migration(s): The possible recent origin of some Native American haplotypes. Crit Anthropol 28:267-278.
91. Xiao Z, Yannone SM, Dunn E, Cowan MJ. 2009. A novel missense RAG-1 mutation results in T-B-NK+SCID in Athabaskan-speaking Dine Indians from the Canadian Northwest Territories. Eur J Hum Genet 17:205-212.
92. Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. 2003. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet 72:62-72. (Pubitemid 36056842)
93. Zegura SL, Karafet TM, Zhivotovsky LA, Hammer MF. 2004. Highresolution SNPs and microsatellite haplotypes oint to a single, recent entry of Native American Y chromosomes into the Americas. Mol Biol Evol 21:164-175.
94. Zheng H-Y, Sugimot C, Hasegawa M, Kobayashi N, Kanayama A, Rodas A, Mejia M, Nakamichi J, Guo J, Kitamura T, Yogo Y. 2003. Phylogenetic relationships among JC virus strains in Japanese/Koreans and Native Americans speaking Amerind or Na-Dene. J Mol Evol 56:18-27. (Pubitemid 36078612)
95. Zlojutro M, Rubicz R, Devor EJ, Spitsyn VA, Makarov SV, Wilson K, Crawford MH. 2006. Genetic structure of the Aluets and circumpolar populations based on mitochondrial DNA sequences: A synthesis. Am J Phys Anthropol 129:446-464. (Pubitemid 43269842)