Investigating the role of X chromosome breakpoints in premature ovarian failure

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Baronchelli, Simona ^a   Villa, Nicoletta ^b   Redaelli, Serena ^a   Lissoni, Sara ^b   Saccheri, Fabiana ^b   Panzeri, Elena ^a   Conconi, Donatella ^a   Bentivegna, Angela ^a   Crosti, Francesca ^b   Sala, Elena ^b   Bertola, Francesca ^a   Marozzi, Anna ^c   Pedicini, Antonio ^d   Ventruto, Marialuisa ^d   Police, Maria Adalgisa ^d   Dalprá, Leda ^a,b  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d S G MOSCATI HOSPITAL   (Italy)

Author keywords

Breakpoint definition; Premature ovarian failure; X chromosome structural aberrations

Indexed keywords

HS6ST1 PROTEIN; HS6ST2 PROTEIN; MATER PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOME; BIOINFORMATICS; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; COHORT ANALYSIS; CYTOGENETICS; FEMALE; GENE LOCUS; HUMAN; KARYOTYPE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRENATAL SCREENING; PRIORITY JOURNAL; X CHROMOSOME ABERRATION; X CHROMOSOME BREAKPOINT;

EID: 84866307920     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-32     Document Type: Article

References (61)

1. Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure. Cheng DH, Tan YQ, Di YF, Li LY, Lu GX, Fertil Steril 2009 92 2 823 826
2. Premature ovarian failure. Conway GS, Br Med Bull 2000 56 3 643 649 10.1258/0007142001903445 11255551
3. Mothers and daughters menopausal ages: is there a link? Torgerson DJ, Thomas RE, Reid DM, Eur J Obstet Gynecol Reprod Biol 1997 74 1 63 66 10.1016/S0301-2115(97)00085-7 9243205
4. Premature ovarian failure. Goswami D, Conway GS, Hum Reprod Update 2005 11 4 391 410 10.1093/humupd/dmi012 15919682
5. Clinical practice. Primary ovarian insufficiency. Nelson LM, N Engl J Med 2009 360 6 606 614 10.1056/NEJMcp0808697 19196677
6. Premature ovarian failure. Shelling AN, Reproduction 2010 140 5 633 641 10.1530/REP-09-0567 20716613
7. The genetic basis of premature ovarian failure. Woad KJ, Watkins WJ, Prendergast D, Shelling AN, Aust N Z J Obstet Gynaecol 2006 46 3 242 244 10.1111/j.1479-828X.2006.00585.x 16704481
8. Cytogenetics of premature ovarian failure: an investigation on 269 affected women. Baronchelli S, Conconi D, Panzeri E, Bentivegna A, Redaelli S, Lissoni S, Saccheri F, Villa N, Crosti F, Sala E, et al. J Biomed Biotechnol 2011 2011 370195 21318170
9. Premature ovarian failure: etiology and prospects. Laml T, Schulz-Lobmeyr I, Obruca A, Huber JC, Hartmann BW, Gynecol Endocrinol 2000 14 4 292 302 10.3109/09513590009167696 11075301
10. Premature ovarian failure. Goswami D, Conway GS, Horm Res 2007 68 4 196 202 10.1159/000102537 17495481
11. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Powell CM, Taggart RT, Drumheller TC, Wangsa D, Qian C, Nelson LM, White BJ, Am J Med Genet 1994 52 1 19 26 10.1002/ajmg.1320520105 7977456
12. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC, N Engl J Med 1987 317 3 125 131 10.1056/NEJM198707163170301 3600701
13. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Portno MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, Frydman R, Reyss AC, Brisset S, Christin-Maitre S, Hum Reprod 2006 21 9 2329 2334 10.1093/humrep/del174 16751643
14. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, et al. Genomics 1997 40 1 123 131 10.1006/geno.1996.4542 9070928
15. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Welt CK, Clin Endocrinol (Oxf) 2008 68 4 499 509 10.1111/j.1365-2265. 2007.03073.x
16. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D, Hum Reprod 2006 21 6 1477 1483 10.1093/humrep/dei495 16497693
17. Genes and translocations involved in POF. Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A, Am J Med Genet 2002 111 3 328 333 10.1002/ajmg.10565 12210333
18. Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship? Lissoni S, Baronchelli S, Villa N, Lucchini V, Betri E, Cavalli P, Dalprá L, Mol Cytogenet 2009 2 19 10.1186/1755-8166-2-19 19781104
19. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprá L, Hum Genet 2000 107 4 304 311 10.1007/s004390000364 11129329
20. Database of Genomic Variants, [ http://projects.tcag.ca/variation/ ]
21. Human Copy Number Variations Database [ http://dbcnv.oasi.en.it/ gvarianti/index.php ]
22. UCSC Genome Browser [ http://genome.ucsc.edu/ ]
23. NCBI database, [ http://www.ncbi.nlm.nih.gov ]
24. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. He C, Kraft P, Chen C, Buring JE, Paré G, Hankinson SE, Chanock SJ, Ridker PM, Hunter DJ, Chasman DI, Nat Genet 2009 41 6 724 728 10.1038/ng.385 19448621
25. A large-scale candidate gene association study of age at menarche and age at natural menopause. He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ, Hum Genet 2010 128 5 515 527 10.1007/s00439-010-0878-4 20734064
26. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Stolk L, Zhai G, van Meurs JB, Verbiest MM, Visser JA, Estrada K, Rivadeneira F, Williams FM, Cherkas L, Deloukas P, et al. Nat Genet 2009 41 6 645 647 10.1038/ng.387 19448619
27. Mater, a maternal effect gene required for early embryonic development in mice. Tong ZB, Gold L, Pfeifer KE, Dorward H, Lee E, Bondy CA, Dean J, Nelson LM, Nat Genet 2000 26 3 267 268 10.1038/81547 11062459
28. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. Tong ZB, Bondy CA, Zhou J, Nelson LM, Hum Reprod 2002 17 4 903 911 10.1093/humrep/17.4.903 11925379
29. Characterization of idiopathic premature ovarian failure. Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS, Fertil Steril 1996 65 2 337 341 8566258
30. Inheritance in idiopathic premature ovarian failure: analysis of 71 cases. Vegetti W, Grazia Tibiletti M, Testa G, de Lauretis Yankowski, Alagna F, Castoldi E, Taborelli M, Motta T, Bolis PF, Dalprá L, et al. Hum Reprod 1998 13 7 1796 1800 10.1093/humrep/13.7.1796 9740426
31. Genetic abnormalities in Turkish women with premature ovarian failure. Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S, Int J Gynaecol Obstet 2010 110 2 122 124 10.1016/j.ijgo.2010.03.023 20471647
32. Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure. Marozzi A, Porta C, Vegetti W, Crosignani PG, Tibiletti MG, Dalprá L, Ginelli E, Hum Reprod 2002 17 7 1741 1745 10.1093/humrep/17.7.1741 12093833
33. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Harris SE, Chand AL, Winship IM, Gersak K, Aittomäki K, Shelling AN, Mol Hum Reprod 2002 8 8 729 733 10.1093/molehr/8.8.729 12149404
34. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, et al. Cell 1995 82 6 959 968 10.1016/0092- 8674(95)90275-9 7553856
35. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D, Hum Genet 2007 121 3-4 441 450 17265046
36. Ovarian differentiation and gonadal failure. Simpson JL, Rajkovic A, Am J Med Genet 1999 89 4 186 200 10.1002/(SICI)1096-8628(19991229)89:4<186::AID- AJMG3>3.0.CO;2-5 10727994
37. X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation. Ferreira SI, Matoso E, Pinto M, Almeida J, Liehr T, Melo JB, Carreira IM, Mol Cytogenet 2010 3 14 10.1186/1755-8166-3-14 20646274
38. Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization. Guo QS, Qin SY, Zhou SF, He L, Ma D, Zhang YP, Xiong Y, Peng T, Cheng Y, Li XT, Eur J Clin Invest 2009 39 8 729 737 10.1111/j.1365-2362.2009.02141.x 19515099
39. The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA. White WM, Willard HF, Van Dyke DL, Wolff DJ, Am J Hum Genet 1998 63 1 20 28 10.1086/301922 9634520
40. Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure. Northup J, Griffis K, Hawkins J, Lockhart L, Velagaleti G, Fertil Steril 2007 87 3 695 698
41. Heparan sulfate proteoglycans: intricate molecules with intriguing functions. Iozzo RV, J Clin Invest 2001 108 2 165 167 11457866
42. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Davison RM, Fox M, Conway GS, Mol Hum Reprod 2000 6 4 314 318 10.1093/molehr/6.4.314 10729312
43. Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase- 2 having different expression patterns and properties. Habuchi H, Miyake G, Nogami K, Kuroiwa A, Matsuda Y, Kusche-Gullberg M, Habuchi O, Tanaka M, Kimata K, Biochem J 2003 371 Pt 1 131 142 12492399
44. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, et al. Proc Natl Acad Sci U S A 2011 108 28 11524 11529 10.1073/pnas.1102284108 21700882
45. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, et al. Am J Hum Genet 1998 62 3 533 541 10.1086/301761 9497258
46. Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome. Rizzolio F, Pramparo T, Sala C, Zuffardi O, De Santis L, Rabellotti E, Calzi F, Fusi F, Bellazzi R, Toniolo D, J Med Genet 2009 46 9 585 592 10.1136/jmg.2007.056093 18628312
47. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Carrel L, Willard HF, Nature 2005 434 7031 400 404 10.1038/nature03479 15772666
48. Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea. Delon B, Lallaoui H, Abel-Lablanche C, Geneix A, Bellec V, Benkhalifa M, Mol Hum Reprod 1997 3 5 439 443 10.1093/molehr/3.5.439 9239729
49. X-autosome translocations: cytogenetic characteristics and their consequences. Mattei MG, Mattei JF, Ayme S, Giraud F, Hum Genet 1982 61 4 295 309 7152515
50. Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome. Wolff DJ, Schwartz S, Carrel L, Genet Med 2000 2 2 136 141 10.1097/00125817-200003000-00004 11397327
51. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Gläser C, Hagemann M, Yatsenko SA, et al. Am J Med Genet A 2006 140 5 442 452 16470732
52. An analysis of Xq deletions. Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F, Hoeller H, Garau A, Tiepolo L, Hum Genet 1996 97 3 375 381 10.1007/BF02185777 8786087
53. Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. McGuire MM, Bowden W, Engel NJ, Ahn HW, Kovanci E, Rajkovic A, Fertil Steril 2011 95 5 1595 1600 10.1016/j.fertnstert.2010.12.052 21256485
54. Del (X)(p21.2) in a mother and two daughters with variable ovarian function. Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V, Clin Genet 1997 52 4 235 239 9383030
55. Translocation t(X;1) and the "critical region hypothesis". Wegner RD, Hum Genet 1982 61 1 79 10.1007/BF00291343 7129435
56. The idiopathic forms of premature menopause and early menopause show the same genetic pattern. Tibiletti MG, Testa G, Vegetti W, Alagna F, Taborelli M, Dalprá L, Bolis PF, Crosignani PG, Hum Reprod 1999 14 11 2731 2734 10.1093/humrep/14.11.2731 10548611
57. Copy number variants on the X chromosome in women with primary ovarian insufficiency. Knauff EA, Blauw HM, Pearson PL, Kok K, Wijmenga C, Veldink JH, van den Berg LH, Bouchard P, Fauser BC, Franke L, et al. Fertil Steril 2011 95 5 1584 1588 10.1016/j.fertnstert.2011.01.018 21316664
58. Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). Quilter CR, Karcanias AC, Bagga MR, Duncan S, Murray A, Conway GS, Sargent CA, Affara NA, Hum Reprod 2010 25 8 2139 2150 10.1093/humrep/deq158 20570974
59. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. Aboura A, Dupas C, Tachdjian G, Portno MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, et al. J Clin Endocrinol Metab 2009 94 11 4540 4546 10.1210/jc.2009-0186 19837940
60. Shaffer LG, Slovak ML, Campbell LJ, ISCN 2009: An International System for Human Cytogenetic Nomenclature S. Karger, Basel 2009
61. Copy number variant analysis of human embryonic stem cells. Wu H, Kim KJ, Mehta K, Paxia S, Sundstrom A, Anantharaman T, Kuraishy AI, Doan T, Ghosh J, Pyle AD, et al. Stem Cells 2008 26 6 1484 1489 10.1634/stemcells.2007-0993 18369100