Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Journal of Human Genetics

Volumn 56, Issue 2, 2011, Pages 155-160

  Nishimura Tadaki, Akira ^a   Wada, Takahito ^b   Bano, Gul ^c   Gough, Karen ^d   Warner, Janet ^d   Kosho, Tomoki ^e   Ando, Noriko ^f   Hamanoue, Haruka ^a   Sakakibara, Hideya ^a   Nishimura, Gen ^g   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Wakui, Keiko ^e   Saitsu, Hirotomo ^a   Fukushima, Yoshimitsu ^e   Hirahara, Fumiki ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d MATER HOSPITAL   (Australia)

^e SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f YOKOHAMA MUNICIPAL CITIZEN'S HOSPITAL   (Japan)

^g TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

COL4A6; critical region; non homologous end joining; premature ovarian failure; X; autosome translocation

Indexed keywords

COLLAGEN TYPE 4; NUCLEOTIDE;

ARTICLE; AUTOSOME; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; PREMATURE OVARIAN FAILURE; SOUTHERN BLOTTING; X CHROMOSOME; CHROMOSOME BREAKAGE; COMPARATIVE STUDY; FEMALE; GENE EXPRESSION REGULATION; GENE TRANSLOCATION; GENETICS; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY; X CHROMOSOMAL INHERITANCE;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, X; FEMALE; GENES, X-LINKED; HUMANS; MUTAGENESIS, INSERTIONAL; PRIMARY OVARIAN INSUFFICIENCY; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSLOCATION, GENETIC;

EID: 79952129153     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.155     Document Type: Article

References (23)

1. Coulam, C. B., Adamson, S. C. & Annegers, J. F. Incidence of premature ovarian failure. Obstet. Gynecol. 67, 604-606 (1986). (Pubitemid 16116286)
2. Therman, E., Laxova, R. & Susman, B. The critical region on the human Xq. Hum. Genet. 85, 455-461 (1990).
3. Schlessinger, D., Herrera, L., Crisponi, L., Mumm, S., Percesepe, A., Pellegrini, M. et al. Genes and translocations involved in POF. Am. J. Med. Genet. 111, 328-333 (2002). (Pubitemid 34815460)
4. Rizzolio, F., Bione, S., Sala, C., Goegan, M., Gentile, M., Gregato, G. et al. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum. Reprod. 21, 1477-1483 (2006). (Pubitemid 44445025)
5. Sala, C., Arrigo, G., Torri, G., Martinazzi, F., Riva, P., Larizza, L. et al. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics 40, 123-131 (1997). (Pubitemid 27108256)
6. Rizzolio, F., Sala, C., Alboresi, S., Bione, S., Gilli, S., Goegan, M. et al. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum. Genet. 121, 441-450 (2007). (Pubitemid 46554680)
7. Bano, G., Mansour, S. & Nussey, S. The association of primary hyperparathyroidism and primary ovarian failure: a de novo t(X; 2) (q22p13) reciprocal translocation. Eur. J. Endocrinol. 158, 261-263 (2008). (Pubitemid 351298545)
8. Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M. & Belmont, J. W. 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 (1992). (Pubitemid 23001082)
9. Carrel, L. & Willard, H. F. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. Am. J. Med. Genet. 64, 27-30 (1996).
10. Kubota, T., Nonoyama, S., Tonoki, H., Masuno, M., Imaizumi, K., Kojima, M. et al. A new assay for the analysis of X-chromosome inactivation based on methylationspecific PCR. Hum. Genet. 104, 49-55 (1999). (Pubitemid 29134641)
11. Khoshnoodi, J., Pedchenko, V. & Hudson, B. G. Mammalian collagen IV. Microsc. Res. Technol. 71, 357-370 (2008). (Pubitemid 351620858)
12. Borza, D. B., Bondar, O., Ninomiya, Y., Sado, Y., Naito, I., Todd, P. et al. The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes. J. Biol. Chem. 276, 28532-28540 (2001).
13. Zhou, J., Ding, M., Zhao, Z. & Reeders, S. T. Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains. J. Biol. Chem. 269, 13193-13199 (1994).
14. Sugimoto, K., Yanagida, H., Yagi, K., Kuwajima, H., Okada, M. & Takemura, T. A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes. Clin. Nephrol. 64, 144-150 (2005). (Pubitemid 41079011)
15. Hertz, J. M., Juncker, I. & Marcussen, N. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. Clin. Genet. 74, 522-530 (2008).
16. Mazaud Guittot, S., Verot, A., Odet, F., Chauvin, M. A. & le Magueresse-Battistoni, B. A comprehensive survey of the laminins and collagens type IV expressed in mouse Leydig cells and their regulation by LH/hCG. Reproduction 135, 479-488 (2008). (Pubitemid 351578154)
17. Prueitt, R. L., Ross, J. L. & Zinn, A. R. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet. Cell Genet. 89, 44-50 (2000). (Pubitemid 30435255)
18. Prueitt, R. L., Chen, H., Barnes, R. I. & Zinn, A. R. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet. Genome Res. 97, 32-38 (2002). (Pubitemid 37499876)
19. Lorda-Sanchez, I. J., Ibanez, A. J., Sanz, R. J., Trujillo, M. J., Anabitarte, M. E., Querejeta, M. E. et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 21, 185-189 (2000).
20. Vizioli, M. G., Sensi, M., Miranda, C., Cleris, L., Formelli, F., Anania, M. C. et al. IGFBP7: an oncosuppressor gene in thyroid carcinogenesis. Oncogene 29, 3835-3844 (2010).
21. Yen, H. W., Jakimiuk, A. J., Munir, I. & Magoffin, D. A. Selective alterations in insulin receptor substrates-1, -2 and -4 in theca but not granulosa cells from polycystic ovaries. Mol. Hum. Reprod. 10, 473-479 (2004). (Pubitemid 39136803)
22. Tamura, K., Matsushita, M., Endo, A., Kutsukake, M. & Kogo, H. Effect of insulin-like growth factor-binding protein 7 on steroidogenesis in granulosa cells derived from equine chorionic gonadotropin-primed immature rat ovaries. Biol. Reprod. 77, 485-491 (2007). (Pubitemid 47328612)
23. Gu, W., Zhang, F. & Lupski, J. R. Mechanisms for human genomic rearrangements. Pathogenetics 1, 4 (2008).