Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males

Journal of Human Genetics

Volumn 51, Issue 9, 2006, Pages 794-799

  De Carvalho, Cláudia Márcia Benedetto ^a   Zuccherato, Luciana Werneck ^a   Fujisawa, Masato ^b   Shirakawa, Toshiro ^b   Ribeiro Dos Santos, Andrea Kely Campos ^c   Santos, Sidney E B ^c   Pena, Sérgio Danilo Junho ^a   Santos, Fabrício Rodrigues ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Universidade Federal Do Ppará   (Brazil)

Author keywords

AZFc; gr gr deletion; Haplogroup D; Male infertility; Y chromosome

Indexed keywords

ARTICLE; AZOOSPERMIA; CHROMOSOME DELETION; CHROMOSOME DELETION Y; CONTROLLED STUDY; HAPLOTYPE; HUMAN; HUMAN CELL; JAPAN; MAJOR CLINICAL STUDY; MALE; MALE FERTILITY; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; PHYLOGENY; RISK FACTOR; SPERMATOGENESIS;

EID: 33748637772     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0024-2     Document Type: Article

References (31)

1. Carvalho CMB, Fujisawa M, Shirakawa T, Gotoh A, Kamidono S, Paulo TF, Santos SEB, Rocha J, Pena SDJ, Santos FR (2003) Lack of association between Y chromosome haplogroups and male infertility in Japanese men. Am J Med Genet 116A:152-158
2. Carvalho CMB, Santos FR (2005) Human Y-chromosome variation and male dysfunction. J Mol Genet Med 1:63-75
3. Carvalho CMB, Pena SDJ (2005) Optimization of a multiplex minisequencing protocol for population studies and medical genetics. Genet Mol Res 4:115-125
4. Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, Santos FR, Pena SD (2006) No association found between gr/gr deletions and infertility in Brazilian males. Mol Hum Reprod 12:269-283
5. Deng W, Shi B, He X, Zhang Z, Xu J, Li B, Yang J, Ling L, Dai C, Qiang B, Shen Y, Chen R (2004) Evolution and migration history of the Chinese population inferred from Chinese Y-chromosome evidence. J Hum Genet 49:339-348
6. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH (2004) A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 74:180-187
7. Fujisawa M, Shirakawa T, Kanzaki M, Okada H, Arakawa S, Kamidono S (2001) Y-chromosome microdeletion and phenotype in cytogenetically normal men with idiopathic azoospermia. Fertil Steril 76:491-495
8. Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56:951-962
9. Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M, Horai S (2006) Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51:47-58
10. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M (2005) Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 20:191-197
11. Jin HJ, Kwak KD, Hammer MF, Nakahori Y, Shinka T, Lee JW, Jin F, Jia X, Tyler-Smith C, Kim W (2003) Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans. Hum Genet 114:27-35
12. Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612
13. Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767-1775
14. Katoh T, Munkhbat B, Tounai K, Mano S, Ando H, Oyungerel G, Chae GT, Han H, Jia GJ, Tokunaga K, Munkhtuvshin N, Tamiya G, Inoko H (2005) Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis. Gene 346:63-70
15. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286
16. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K, Kotliarova SE, Kondoh N, Koh E, Namiki M, Shinka T, Nakahori Y (1999) Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 44:289-292
17. de Llanos M, Ballesca JL, Gazquez C, Margarit E, Oliva R (2005) High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 20:216-220
18. Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HW, de Kretser DM, McLachlan RI (2005) The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 11:507-512
19. Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome; but not gene copy loss; is strongly associated with male infertility. J Med Genet 41:814-825
20. Ravel C, Chantot-Bastaraud S, El Houate B, Mandelbaum J, Siffroi JP, McElreavey K (2006) GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril 85:229-231
21. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247-251
22. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2004) A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046-1052
23. Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38:463-467
24. Rosser Z, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W et al (2000) Y-chromosomal diversity within Europe is clinal and influenced primarily by geography rather than language. Am J Hum Genet 67:1526-1543
25. Santos FR, Bianchi NO, Pena SD (1996) Worldwide distribution of human Y-chromosome haplotypes. Genome Res 6:601-611
26. Shinka T, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y (1999) Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage. J Hum Genet 44:240-245
27. Suchneider S, Roessli D, Excoffier L (2000) Arlequin ver. 2.000: a software for population genetic data analysis. Genetic and Biometry Laboratory, University of Geneva, Geneva, Switzerland
28. Tajima A, Pan IH, Fucharoen G, Fucharoen S, Matsuo M, Tokunaga K, Juji T, Hayami M, Omoto K, Horai S (2002) Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia. Hum Genet 110:80-88
29. The Y Chromosome Consortium (2002) A nomenclature for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339-348
30. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358-361
31. Underhill PA, Passarino G, Lin AA, Shen P, Mirazon Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43-62