A novel partial deletion of the y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts

Human Reproduction

Volumn 26, Issue 3, 2011, Pages 713-723

  Noordam, M J ^a   Van Daalen, S K M ^a   Hovingh, S E ^a   Korver, C M ^a   Van Der Veen, F ^a   Repping, S ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

AZFc; evolution; gene copy number; spermatogenesis; Y chromosome

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; AZOOSPERMIA FACTOR C GENE; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; GENE; GENE DELETION; GENE DOSAGE; GENETIC RECOMBINATION; HUMAN; MALE; NON HOMOLOGOUS RECOMBINATION; OLIGOSPERMIA; REAL TIME POLYMERASE CHAIN REACTION; SPERMATOGENESIS; SPERMATOZOON COUNT; SUBFERTILITY; Y CHROMOSOME;

EID: 79951562565     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/deq386     Document Type: Article

References (17)

1. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 2004;74:180-187. (Pubitemid 38085250)
2. Fukushima Y, Ohashi H, Wakui K, Nishida T, Oh-ishi T. A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines. Jpn J Hum Genet 1992;37:149-150.
3. Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF. New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 2008;18:830-838. (Pubitemid 351645073)
4. Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M et al. Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 1997; 110:125-129.
5. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001; 29:279-286. (Pubitemid 33096452)
6. Lemos B, Araripe LO, Hartl DL. Polymorphic Y chromosomes harbor cryptic variation with manifold functional consequences. Science 2008; 319:91-93.
7. McVey M, Lee SE. MMEJ repair of double-strand breaks (director's cut): deleted sequencesand alternative endings. TrendsGenet 2008;24:529-538.
8. Moore JK, Haber JE. Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae. Mol Cell Biol 1996;16:2164-2173.
9. Noordam MJ, Repping S. The human Y chromosome: a masculine chromosome. Curr Opin Genet Dev 2006;16:225-232.
10. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-393.
11. Repping S, Skaletsky H, Lange J, Silber S, van der Veen F, Oates RD, Page DC, Rozen S. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002;71:906-922. (Pubitemid 135750521)
12. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003;35:247-251. (Pubitemid 37363178)
13. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 2004;83:1046-1052. (Pubitemid 38726052)
14. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-837. (Pubitemid 36781267)
15. Stouffs K, Lissens W, Verheyen G, van Landuyt L, Goossens A, Tournaye H, van Steirteghem A, Liebaers I. Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis. Mol Hum Reprod 2004;10:15-21. (Pubitemid 38195961)
16. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-943. (Pubitemid 26232272)
17. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. Cambridge, UK: Cambridge University Press 1992