DAZ duplications confer the predisposition of y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations

Human Reproduction

Volumn 28, Issue 9, 2013, Pages 2440-2449

  Lu, Chuncheng ^a,b   Wang, Ying ^b   Zhang, Feng ^c   Lu, Feng ^a   Xu, Miaofei ^b   Qin, Yufeng ^b   Wu, Wei ^b   Li, Shilin ^c   Song, Ling ^b   Yang, Shuping ^c   Wu, Di ^b   Jin, Li ^c   Shen, Hongbing ^a   Sha, Jiahao ^a   Xia, Yankai ^a,b   Hu, Zhibin ^a   Wang, Xinru ^a,b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b Nanjing Medical University   (China)

^c FUDAN UNIVERSITY   (China)

Author keywords

chromosomal rearrangement; copy number; DAZ gene; spermatogenic impairment; Y chromosome haplogroup

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CONTROLLED STUDY; DAZ GENE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; OLIGOSPERMIA; POPULATION GENETICS; SPERMATOGENESIS; Y CHROMOSOME;

CHROMOSOMAL REARRANGEMENT; COPY NUMBER; DAZ GENE; SPERMATOGENIC IMPAIRMENT; Y CHROMOSOME HAPLOGROUP;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; AZOOSPERMIA; CASE-CONTROL STUDIES; CHINA; CHROMOSOMES, HUMAN, Y; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, Y-LINKED; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFERTILITY, MALE; MALE; OLIGOSPERMIA; PHYLOGENY; RNA-BINDING PROTEINS;

EID: 84883143003     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/det234     Document Type: Article

References (38)

1. Arredi B, Ferlin A, Speltra E, Bedin C, Zuccarello D, Ganz F, Marchina E, Stuppia L, Krausz C, Foresta C. Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. J Med Genet 2007;44:205-208. (Pubitemid 46580530)
2. Cai XY, Wang XF, Li SL, Qian J, Qian DG, Chen F, Yang YJ, Yuan ZY, Xu J, Bai Y et al. Association of mitochondrial DNA haplogroups with exceptional longevity in a Chinese population. PLoS One 2009;4:e6423.
3. Carvalho CM, Fujisawa M, Shirakawa T, Gotoh A, Kamidono S, Freitas Paulo T, Santos SE, Rocha J, Pena SD, Santos FR. Lack of association between Y chromosome haplogroups and male infertility in Japanese men. Am J Med Genet A 2003;116A:152-158. (Pubitemid 36043386)
4. Cooper TG, Noonan E, von Eckardstein S, Auger J, Baker HW, Behre HM, Haugen TB, Kruger T, Wang C, Mbizvo MT et al. World Health Organization reference values for human semen characteristics. Hum Reprod Update 2010;16:231-245.
5. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007;92:762-770. (Pubitemid 46465638)
6. Graves JA. Sex chromosome specialization and degeneration in mammals. Cell 2006;124:901-914. (Pubitemid 43344232)
7. Guzick DS, Overstreet JW, Factor-Litvak P, Brazil CK, Nakajima ST, Coutifaris C, Carson SA, Cisneros P, Steinkampf MP, Hill JA et al. Sperm morphology, motility, and concentration in fertile and infertile men. N Engl J Med 2001;345:1388-1393.
8. Jin L, Su B. Natives or immigrants: modern human origin in East Asia. Nat Rev Genet 2000;1:126-133.
9. Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003;4:598-612. (Pubitemid 36917502)
10. 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)
11. Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jorgensen N, Jobling MA, Rosser ZH, Skakkebaek NE, McElreavey K. Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet 2001;10:1873-1877. (Pubitemid 32910531)
12. Kumar S, Subramanian S. Mutation rates in mammalian genomes. Proc Natl Acad Sci USA 2002;99:803-808. (Pubitemid 34106591)
13. 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)
14. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K et al. Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 1999;44:289-292. (Pubitemid 29436694)
15. Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, ForestaCetal. Polymorphisms associated with the DAZ genes on the human Y chromosome. Genomics 2005;86:431-438. (Pubitemid 43293156)
16. Lin YW, Hsu CL, Yen PH. A two-step protocol for the detection of rearrangements at the AZFc region on the human Y chromosome. Mol Hum Reprod 2006;12:347-351. (Pubitemid 43821798)
17. Lin YW, Hsu LC, Kuo PL, Huang WJ, Chiang HS, Yeh SD, Hsu TY, Yu YH, Hsiao KN, Cantor RM et al. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum Mutat 2007;28:486-494. (Pubitemid 46668607)
18. Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X. The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese. J Hum Genet 2007;52:659-663. (Pubitemid 47106488)
19. Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B, Wu W, Ji G, Gu A, WangSetal.The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet 2009;18:1122-1130.
20. Lu C, Zhang F, Yang H, Xu M, Du G, Wu W, An Y, Qin Y, Ji G, Han X et al. Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population. Hum Mol Genet 2011;20:4411-4421.
21. Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics 2000;156:297-304.
22. Previdere C, Stuppia L, Gatta V, Fattorini P, Palka G, Tyler-Smith C. Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations. Eur J Hum Genet 1999;7:733-736. (Pubitemid 29424067)
23. Raymond M, Rousset F. An exact test of population differentiation. Evolution 1995;49:1280-1283.
24. 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.
25. 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)
26. 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)
27. Salas A, Quintans B, Alvarez-Iglesias V. SNaPshot typing of mitochondrial DNA coding region variants. Methods Mol Biol 2005;297:197-208.
28. Sengupta S, Zhivotovsky LA, King R, Mehdi SQ, Edmonds CA, Chow CE, Lin AA, Mitra M, Sil SK, Ramesh A et al. Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influenceof Central Asian pastoralists.AmJHum Genet 2006;78:202-221. (Pubitemid 43157561)
29. Shi H, Dong YL, Wen B, Xiao CJ, Underhill PA, Shen PD, Chakraborty R, Jin L, Su B. Y-chromosome evidenceofsouthern originofthe East Asian-specific haplogroup O3-M122. Am J Hum Genet 2005;77:408-419. (Pubitemid 41192647)
30. 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)
31. Storey JD, Tibshirani R. Statistical significance for genomewide studies. Proc Natl Acad Sci USA 2003;100:9440-9445. (Pubitemid 37033947)
32. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34:119-124.
33. 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)
34. Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, Song L, Wang SL, Shen HB, Wang XR. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 2007;22:1107-1113.
35. Xue Y, Zerjal T, Bao W, Zhu S, Shu Q, Xu J, Du R, Fu S, Li P, Hurles ME et al. Male demography in East Asia: a north-south contrast in human population expansion times. Genetics 2006;172:2431-2439.
36. Yang Y, Ma M, Li L, Zhang W, Xiao C, Li S, Ma Y, Tao D, Liu Y, Lin L et al. Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population. J Med Genet 2008;45:210-215. (Pubitemid 351518725)
37. Y chromosome consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002; 12:339-348.
38. Zhang F, Lu C, Li Z, Xie P, Xia Y, Zhu X, Wu B, Cai X, Wang X, Qian J et al. Partial deletions are associated withan increased riskofcomplete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J Med Genet 2007;44:437-444. (Pubitemid 47056869)