Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 945-951

  Bretherick, Karla L ^a,b   Metzger, Daniel L ^c   Chanoine, Jean Pierre ^c   Panagiotopoulos, Constadina ^a,c   Watson, Spencer K ^d   Lam, Wan L ^d   Fluker, Margo R ^a,e   Brown, Carolyn J ^a   Robinson, Wendy P ^a,b,f  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d BRITISH COLUMBIA CANCER RESEARCH CENTRE   (Canada)

^e Genesis Fertility Centre   (Canada)

^f NONE   (Canada)

Author keywords

Amenorrhea; Chromosome deletion; DNA microarray; Menopause; Mosaicism; Premature ovarian failure; X chromosome inactivation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CONTROLLED STUDY; DNA METHYLATION; DNA MICROARRAY; FEMALE; FISHER EXACT TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; HETEROZYGOSITY; HUMAN; OVARY FOLLICLE; OVARY INSUFFICIENCY; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SECONDARY AMENORRHEA; TRISOMY; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; AMENORRHEA; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OVARIAN FAILURE, PREMATURE; X CHROMOSOME INACTIVATION;

EID: 34247855875     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31679     Document Type: Article

References (43)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJA, Yang KT, Lee C, Hudson R, Gorwill H, Nolin S, Glicksman A, Jenkins EC, Brown WT, Howard-Peebles PN, Becchi C, Cummings E, Fallon L, Seitz S, Black SH, Vianna-Morgante AM, Costa SS, Otto PA, Mingroni-Netto RC, Murray A, Webb J, MacSwinney F, Dennis N, Jacobs PA, Syrrou M, Georgiou I, Patsalis PC, Giovannucci Uzielli ML, Guarducci S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F. 1999. Fragile X premutation is a significant risk factor for premature ovarian failure: The international collabarative POF in fragile X study. Am J Med Genet 83:322-325.
3. Anasti JN. 1998. Premature ovarian failure: An update. Fertil Steril 70:1-15.
4. Beever CL, Stephenson MD, Penaherrera MS, Jiang RH, Kalousek DK, Hayden M, Field L, Brown CJ, Robinson WP. 2003a. Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am J Hum Genet 72:399-407.
5. Beever CL, Lai BPY, Baldry AEL, Penaherrera MS, Jiang R, Robinson WP, Brown CJ. 2003b. Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns. Am J Med Genet Part A 120A:439-441.
6. Bione S, Benedetti S, Goegan M, Menditto I, Marozzi A, Ferrari M, Toniolo D. 2006. Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet Part A 140A:1349-1351.
7. Bretherick KL, Fluker MR, Robinson WP. 2005a. FMR1 repeat sizes in the grey zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117:376-382.
8. Bretherick KL, Gair J, Robinson WP. 2005b. The association of skewed X-chromosome inactivation with aneuploidy in humans. Cytogenet Genome Res 11:260-265.
9. Brown CJ, Robinson WP. 2000. The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet 58:353-363.
10. Cheng EY, Chen YJ, Bonnet G, Gartler SM. 1998. An analysis of meiotic pairing in trisomy 21 oocytes using fluorescent in situ hybridization. Cytogenet Cell Genet 80:48-53.
11. Chi B, DeLeeuw RJ, Coe BP, MacAulay C, Lam WL. 2004. SeeGH-a software tool for visualization of whole genome array comparative genomic hybridization data. BMC Bioinformatics 5:13.
12. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. 2006. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81.
13. Conway GS. 2000. Premature ovarian failure. Br Med Bull 56:643-649.
14. Coulam CB, Adamson SC, Annegers JF, 1986. Incidence of premature ovarian failure. Obstet Gynecol 67:604-606.
15. Davis SR. 1996. Premature ovarian failure. Maturitas 23:1-8.
16. Davis CJ, Davison RM, Payne NN, Rodeck CH, Conway GS. 2000. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Hum Reprod 15:2418-2422.
17. Davison RM, Davis CJ, Conway GS. 1999. The X chromosome and ovarian failure. Clin Endocrinol (Oxf) 51:673-679.
18. Devi A, Benn PA. 1999. X-chromosome abnormalities in women with premature ovarian failure. J Reprod Meet 44:321-324.
19. Devlin L, Morrison PJ. 2004. Mosaic Down's syndrome prevalence in a complete population study. Arch Dis Child 89:1177-1178.
20. Eichler EE. 2006. Widening the spectrum of human genetic variation. Nat Genet 38:9-11.
21. Goswami D, Conway GS. 2005. Premature ovarian failure. Hum Reprod Update 11:391-410.
22. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M. 1996. Human Aneuploidy: Incidence, Origin, and Etiology. Environ Mol Mutagen 28:167-175.
23. Ishkanian AS, Malloff CA, Watson SK, deLeeuw RJ, Chi B, Coe BR, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacCauley C, Lam WL. 2004. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
24. Jong K, Marchori E, Meijer G, Vaart AV, Ylstra B. 2004. Breakpoint identification and smoothing of array comparative genomic hybridization data. Bioinformatics 20:3636-3637.
25. Kalantaridou SN, Davis SR, Nelson LM. 1998. Premature ovarian failure. Endocrinol Metab Clin North Am 27:989-1006.
26. Khojasteh M, Lam WL, Ward RK, MacAulay C. 2005. A stepwise framework for the normalization of array CGH data. BMC Bioinformatics 6:274.
27. Lau AW, Brown CJ, Penaherrera M, Langlois S, Kalousek DK, Robinson WP. 1997. Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet 61:1353-1361.
28. Lyon MF. 1961. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373.
29. McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM, The International HapMap Consortium. 2006. Common deletion polymorphisms in the human genome. Nat Genet 38:86-92.
30. McKinlay S, Jefferys M, Thompson B. 1972. An investigation of the age at menopause. J Biosoc Sci 4:161-173.
31. Nelson LM, Covington SN, Rebar RW. 2005. AN update:spontaneous premature ovarian failure is not early menopause. Fertil Steril 83:1327-1332.
32. Penaherrera MS, Barrett IJ, Brown CJ. Langlois S, Yong SL, Lewis S, Bruyere H, Howard-Peebles PN, Kalousek DK, Robinson WP. 2000. An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta. Clin Genet 58:436-446.
33. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
34. Robinson WP, Beever C, Brown CJ, Stephenson MD. 2001. Skewed X inactivation and recurrent spontaneous abortion. Semin Reprod Med 19:175-181.
35. Sato K, Uehara S, Hashiyada M, Nabeshima H, Sugawara J, Terada Y, Yaegahi N, Okamura K. 2004. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure. Am J Med Genet Part A 130A:240-244.
36. Schwartz CF, Dean J, Howard-Peebles PN, Bugge M, Mikkelsen M, Tommerup N, Hull C, Hagerman R, Holden JJA, Stevenson RE. 1994. Obstetrical and gynecological complications in fragile X carriers: A multicenter study. Am J Med Genet 51:400-402.
37. Seltzer GB, Schupf N, Wu HS. 2001. A prospective study of menopause in women with Down's syndrome. J Intellect Disabil Res 45:1-7.
38. Simpson JL, Rajkovic A. 1999. Ovarian differentiation and gonadal failure. Am J Med Genet 89:186-200.
39. Stavropoulos DJ, Bick D, Kalousek DK. 1998. Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. Am J Hum Genet 63:1912-1914.
40. Toniolo D. 2006. X-linked premature ovarian failure: A complex disease. Curr Opin Genet Dev 16:293-300.
41. Uehara S, Hashiyada M, Sato K, Sato Y, Fujimori K, Okamura K. 2001. Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss. Fertil Steril 76:908-914.
42. Vegetti W, Marozzi A, Manfredi E, Testa G, Alagna F, Nicolosi A, Caliari I, Taborelli M, Tilbiletti MG, Dalpra L, Crosignani PG. 2000. Premature ovarian failure. Mol Cell Endocrinol 161:53-57.
43. Wong KK, de Leeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, Lam WL. 2007. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80:91-104.