X inactivation in triploidy and trisomy: The search for autosomal transfactors that choose the active X

European Journal of Human Genetics

Volumn 16, Issue 2, 2008, Pages 153-162

  Migeon, Barbara R ^a   Pappas, Kara ^a   Stetten, Gail ^a   Trunca, Carolyn ^b   Jacobs, Patricia A ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Genetics Center Inc   (United States)

^c WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANS ACTING FACTOR;

ARTICLE; AUTOSOME; CHROMOSOME 11; CHROMOSOME 19P; CHROMOSOME 19Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 5P; CHROMOSOME 5Q; CHROMOSOME MAP; CONTROLLED STUDY; FEMALE; FETUS; GENE DOSAGE; GENE LOCUS; GENE REPRESSION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; TRIPLOIDY; TRISOMY; X CHROMOSOME INACTIVATION;

ANIMALS; CHROMOSOMES, HUMAN, X; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MICE; POLYPLOIDY; RNA, UNTRANSLATED; TRANS-ACTIVATORS; TRISOMY; X CHROMOSOME INACTIVATION;

EID: 38349126789     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201944     Document Type: Article

References (88)

1. Brown CJ, Hendrich BD, Rupert JL et al: The human XIST gene: analysis of a 17kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 1992; 71: 527-542.
2. Harnden DG: Nuclear sex in triploid XXY human cells. Lancet 1961; ii: 488.
3. Weaver D, Gartler S, Boue A, Boue JG: Evidence for two active X chromosomes in a human XXY triploid. Hum Genet 1975; 28: 39-42.
4. Migeon BR, Sprenkle JA, Do TT: Stability of the two active X phenotype in triploid cells. Cell 1979; 18: 637-641.
5. Jacobs PA, Masuyama AM, Buchanan IM, Wilson C: Late replicating X chromosomes in human triploidy. Am J Hum Genet 1979; 31: 446-457.
6. Gartler SM, Varadarajan KR, Luo P, Norwood TH, Canfield TK, Hansen RS: Abnormal X:aUtosome ratio, but normal X chromosome inactivation in human triploid cultures. BMC Genet 2006; 7: 41.
7. Migeon BR: X chromosoTe inactivation: theme and variations. Cytogenet Genome Res 2002; 99: 8-16.
8. Jacobs PA, Migeon BR: Studies of X-chromosome inactivation in trisomies. Cytogenet Cell Genet 1989; 50: 75-77.
9. Zaragoza M, Surti U, Redline RW, Millie E, Chakravarti A, Hassold TJ: Parental origin and phenotype of triploidy in spontaneous abortions. Am J Hum Genet 2000; 66: 1807-1820.
10. McFadden DE, Langlois S: Parental and meiotic origin of triploidy in the embryonic and fetal periods. Clin Genet 2000; 58: 192-200.
11. McFadden DE, Robinson WP: Phenotype of triplold embryos. J Med Genet 2006; 43: 609-612.
12. Baumer A, Balmer D, Blinkert F, Schinzel A: Parental origin and mechanisms of formation of triploidy: A study of 25 cases. Eur J Hum Genet 2000; 8: 911-917.
13. Daniel A, Wu Z, Bennetts B et al: Karyotype, phenotype and parental origin in 19 cases of triploidy. Prena Diagn 2001; 21 1034-1048.
14. Kajii T, Niikawa N: Origin of triploidy and tetraploidy in man: 11 cases-with chromosome markers. Cytogenet Cell Genet 1977; 18 109-125.
15. Migeon BR, Chowdhury AK, Dunston JA, McIntosh I: Identification of TSIX encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: Implications for X inactivation. Am J Hum Genet 2001; 69: 951-960.
16. Migeon BR, Lee CH, Chowdhury AK, Carpenter H: Species differences in TSIX/Tsix reveal the roles of these genes in X chromosome inactivation. Am J Hum Genet 2002; 71: 286-293.
17. Jacobs PA, Morton NE: Origin of human trisomics and polyploids. Hum Hered 1977; 27: 59-72.
18. Kaufman MH, Speirs S, Lee KK: The sex-chromosome constitution and early postimplantation development of diandric triploid mouse embryos. Cytogenet Cell Genet 1989; 50: 98-101.
19. Rastan SJ: Non-random X-chromosome inactivation in mouse X-autosome translocation embryos - location of the inactivation centre. J Embryol Exp Morph 1983; 78: 1-22.
20. Lyon MF, Rastan S: Paternal source of chromosome imprinting and its relevance for X chromosome inactivation. Differentiation 1984; 26: 63-67.
21. Dunn TM, Grunfeld L, Kardon NB: Trisomy 1 in a clinically recognized IVF pregnancy. Am J Med Genet 2001; 99: 152-153.
22. Banzai M, Sato S, Matsuda H, Kanasugi H: Trisomy 1 in a case of a missed abortion. J Hum Genet 2004; 49: 396-397.
23. Hanna JS, Shires P, Matile G: Trisomy 1 in a clinically recognized pregnancy. Am J Med Genet 1997; 68: 98.
24. Watt JL, Templeton AA, Messinis I, Bell L, Cunningham P, Duncan RO: Trisomy 1 in an eight cell human pre-embryo. J Med Genet 1987; 24: 60-64.
25. Shaffer LG, Tommerup N: ISCN (2005): An International System for Human Cytogenetic Nomenclature. Basel, Switzerland S Karger, 2005.
26. Baialardo EM, del V Torrado M, Barreiro C, Gallego MS: Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;013) in a boy with no mental retardation. Clin Dysmorphol 2003; 12: 257-259.
27. Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC: First clinical case of small de novo duplication of 19q (13.3 → 13.4) confirmed by FISH. Am J Med Genet 2000; 91: 201-203.
28. Boyd E, Grass FS, Parke JC, Knutson K, Stevenson R: Duplication of distal 19q: Clinical report and review. Am J Med Genet 1992; 42 326-330.
29. Brimblecombe FS, Lewis FJ, Vowles M: Complete 5p′ trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 1977; 14: 271-275.
30. Brown J, Horsley SW, Jung C et al: Identification of a subtle t (16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 2000; 8: 903-910.
31. Byrne JLB, Korn GA, Dev VG et al: Partial trisomy. Am J Hum Genet 1990; 6A: 32.
32. Cervera M, Sanches S, Molina B et al: Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3p13.3). Am J Med Gen 2005; 136A: 381-385.
33. Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W: Confirmation of proximal 1q duplication using fluorescence in situ hybridization. Am J Med Genet 1994; 50: 28-31.
34. Cousineau AJ, Higgins JV, Hackel E et al: Cytogenetic recognition of chromosomal duplication [dup (1)(p31.4-p22.1)] and the detection of three different alleles at the PGM locus. Am Hum Genet 1981; 45 337-340.
35. Curry CJR, Loughman WD, Francke U et al: Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome. Clin Genet 1979; 15: 454-461.
36. Dhellemes C, Cholset A, Narbouton R et al: Interstitial dup (1p) and severe intrauterine growth retardation. Ann Genet 1988; 31 129-131.
37. Dorn T, Riegel M, Schinzel A, Siegel AM, Kramer G: Epilepsy and trisomy 19q - different seizure patterns in a brother and a sister. Epilepsy Res 2001; 47: 119-126.
38. Douyard J, Hawley P, Chaham M, Kimois V: Duplication of 5q15-q23.2: case report and literature review. Birth Defects Res A Clin Mol Teratol 2006; 76: 272-276.
39. Yatsenko SA, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F: Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]. Am J Med Genet A 2004; 128: 72-77.
40. Elejalde RR, Opitz JM, de Elejalde MM et al: Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. J Med Genet 1984; 17: 723-730.
41. Elias-Jones AC, Habibl P, Larcher VF, Spencer T, Butler LJ: The trisomy (5) (q31 → qter) syndrome: Study of a family with a t(5;14) translocation. ArcDis Child 1988; 63: 427-431.
42. Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H: Distinct dysmorphic syndrome in a child with inverted distal 5q duplications. Ann Genet 1987; 30: 186-188.
43. Furforo L, Rittler M, Slavutsky I: Proximal trisomy 1q in a girl with developmental delay and minor abnormalities. Am J Med Genet 1996; 64: 551-555.
44. Garcia-Heras J, Corley N, Garcia MF, Kukolich MK, Smith KG, Day DW: De novo partial duplications 1p: Report of two new cases and review. Am J Med Genet 1999; 82: 261-264.
45. Gilgenkrantz S, Dulucq P, Bresson JL, Gouget A, Pernot C, Gregoire MJ: Partial proximal trisomy of the long arm of chromosome S (q13→q22) resulting from maternal insertion der ins (10;5). J Med Genet 1981; 18: 465-480.
46. Halal F, Vekemans M, der Kaloustian VM: A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q. J Med Genet 1989; 32: 376-379.
47. Heilstedt HA, Shapira SK, Gregg AR, Shaffer LG: Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. Clin Genet 1999; 56: 123-128.
48. Hiraki Y, Fujita H, Yamamori S et al: Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1). Am J Med Genet A 2006; 140: 1773-1777.
49. Hoechstetter L, Soukup S, Schorry EK: Familial partial duplication (1) (p21p31). J Med Genet 1995; 59: 291-294.
50. Hustinx T, Nabben F, Scheres J: Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5 and 6. Am J Med Genet 1979; 3: 353-358.
51. Jalbert P, Jalbert H, Sele B et al: Partial trisomy for the long arms of chromosome No. 5 due to insertion and further aneusomie de recombinaison. JMed Genet 1975; 12: 418-423.
52. Jones LA, Jordan DK, Taysi K, Strauss AW, Toth JK: Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature. Hum Genet 1979; 51 37-42.
53. Lo IFM, Cheung LYK, Ng AYY, Lam STS: Interstitial dup (1p) with findings of Kabuki make-up syndrome. J Med Genet 1998; 78: 55-57.
54. Lorda-Sanchez I, Urioste M, Villa A et al: Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet 1997; 68: 476-480.
55. Madokoro H, Ohdo S, Sonoda T, Kawaguchi K, Ohba K: Partial trisomy for 19q due to paternal 18/19 reciprocal translocation. Jpn J Hum Genet 1988; 33: 61-65.
56. Martin NJ, Cartwright DF, Harvey PJ: Duplication 5q (5q22→5q33): from an intrachromosomal insertion. J Med Genet 1985; 20: 57-62.
57. Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL: Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion. J Med Genet 2003; 116A: 268-271.
58. Michels VV, Berseth CL, O'Brien JF, Dewald G: Duplication of part of chromosome 1q: Clinical report and review of literature. Am J Med Genet 1984; 18: 125-134.
59. Mohammed FMA, Farag TI, Gunawardana SS et al: Direct duplication of chromosome 1, dir dup(1)(p2l.2→p32) in a bedouin boy with multiple congenital anomalies. J Med Genet 1998; 32: 353-355.
60. Mowat D, Jauch A, Robson L, Smith A: Duplication within chromosome 5q characterized by fluorescence in situ hybridization. Am J Med Genet 1999; 83:361-364.
61. Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EL: Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and D17S379 loci. Am J Med Genet 1999; 85: 99-104.
62. Pettenati M, Berry M, Shashi V, Hartley Bowen J, Harper M: Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn 2001; 21 435-44C.
63. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S: Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res 2005; 111: 171-174.
64. Qorri M, Oei P, Dockery H, McGraghran J: A rare case of a de novo dup (19q) associated with a mild phenotype. J Med Genet 2003; 39: 61.
65. Quack B, Van Roy N, Verschraegen-Spae Mk, Klein F: Interstitial deletion and ring chromosome derived from 19q. Ann Genet 1992; 35: 241-244.
66. Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW: Submicroscopic deletion 9(q34.2) and duplication 19(p13.3): Identified by subtelomer specific FISH probes. Am J Med Genet A 2004; 125: 67-72.
67. Ramussen SA, Frias JL, Lager CZ, Eunpu DL, Zacaki EH: Partial duplication 1q: Report of four patients and review of the literature. J Med Genet 1990; 36: 137-143.
68. Reichenbach H, Holland H, Dalitz E et al: De novo complete trisomy 5p: Clinical report and FISH studies. Am J Med Genet 1999; 85 447-451.
69. Rodewald A, ZanTl M, Gley EO, Zang KD: Partial trisomie 5q: three different phenotypes depending on different duplication segments. Hum Genet 1980, 55: 191-198.
70. Rosenthai J, Abeloliovich D, Carmi R: Clinical variability of partial duplication 1q: A clinical report and literature review. J Med Genet 1987; 27: 787-792.
71. Rovescalli A, Ghidoni A: An unusually large 5q duplication in an adult female subject: Spreading of inactivation and in vitro instability of the derivative Xp/5q chromosome. Ann Genet 1989; 32: 235-240.
72. Salbert BA, Solomon M, Spence JE, Jackson-Cook C, Brown J, Bodurtha J: Partial trisomy 19p: Case report and natural history. Clin Genet 1992; 41: 143-146.
73. Schmid W: Trisomy for the distal third of the long arm of chromosome 19 in brother and sister. Hum Genet 1979; 46: 263-270.
74. Schorry EK, Dietrich KN, Saal HM et al: Partial trisomy 1q with growth hormone deficiency and normal intelligence. Am J Med Genet 1998; 77: 257-260.
75. Stratton RF, DuPont BR, Olsen AS, Fertitta A, Hoyer M, Moore CM: Interstitial duplication 19p. Am J Med Genet 1995; 57: 562-564.
76. Su P-H, Kuo P-L, Chen S-J, Huang S-C, Chen J-Y, Hung H-N: Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. J Formos Med Assoc 2005; 104: 525-530.
77. Uchiyama A, Haneda N, Saito K et al: A girl with partial trisomy 5q35-qter and partial trisomy 13pter → q31 derived via a maternal balanced translocatloh. Eur J Pediatr 2001; 16: 360-361.
78. Utkus A, Sorokina I, Kucinskas V et al: Duplication of segment 1p21 following paternal insertional translocation, ins (6;1)(q25;p13.3p22.1). J Med Genet 1999; 36: 73-76.
79. Valerio D, Lavorgna F, Scalona M, Conte A: A new case of partial trisomy 19q.(q13.Z→qter) owing to an unusual maternal translocation. J Med Genet 1993; 30: 697-699.
80. Velagaleti GVN, Morgan DL, Tonk VS: Trisomy 5p: A case report and review. Anne Genet 2000; 43: 143-145.
81. Warden CR, Pillers DM, Rice MJ.et al: Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations. J Med Genet 2001; 101: 100-105.
82. Wieacker P, Missbach D, Jakubiczka S, Borgmann S, Albers N: Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3). Clin Genet 1996; 49: 271-273.
83. Wysocka B, Brozek I, Wierzba J et al: Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: A female with a balanced translocation t (X:5)(p11;q31) and a male with a der (13;14)(q10;q10) - a case report and a family study. Ann Genet 2002; 45: 143-146.
84. Zabel B, Baumann W, Gehler J, Conrad G: Partial trisomy for short and long arm of chromosome no. 5. J Med Genet 1978; 15: 143-147.
85. Zonana J, Brown MG, Magenis RE: Distal 19q duplication. Hum Genet 1982; 60: 267-270.
86. Zuffardi O, Tiepolo L, Scappaticci S et al: Reduced phenotypic effect on partial trisomy 1q in a X/1. Translocation. Ann Genet 1977; 20: 191-194.
87. Percec I, Thorvaldsen JL, Plenge RM et al: An N-ethyl-N nitrosourea mutagenesis screen for epigenetic mutations in the mouse. Genetics 2003; 164: 1481-1494.
88. Lomvardas S, Barnea G, Pisapia DJ, Mendelsohn M, Kirkland J, Axel R: Interchromosomal interactions and olfactory receptor choice. Cell, 2006; 126: 403-413.