Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan
The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be asso...
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| Published in | Human mutation Vol. 28; no. 5; pp. 486 - 494 |
|---|---|
| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.05.2007
John Wiley & Sons, Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1059-7794 1098-1004 1098-1004 |
| DOI | 10.1002/humu.20473 |
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| Abstract | The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg‐N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population. Hum Mutat 28(5), 486–494, 2007. © 2007 Wiley‐Liss, Inc. |
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| AbstractList | The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population. Hum Mutat 28(5), 486-494, 2007. © 2007 Wiley-Liss, Inc. The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population. Hum Mutat 28(5), 486-494, 2007. The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population.The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population. The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very long repeats and is prone to rearrangement. Numerous structures at AZFc have been identified, and some of them have been reported to be associated with male infertility. We screened 580 Han Chinese in Taiwan for AZFc deletion and duplication using three PCR assays, and characterized the DAZ genes in selected subjects with additional Southern analyses. About 9.5% of our subjects have AZFc partial deletion, 2.8% have partial deletion followed by duplication, and 1.7% have partial duplication. The overall rearrangement frequencies vary significantly between different Y chromosome haplogroups (Yhgs), ranging from 2.9% in O3e to 100% in N and Q. All individuals in Yhg-N lack the sY1191 marker, but one out of three of them actually have four DAZ genes, indicating further duplication after the b2/b3 deletion. Our additional screening of 142 oligospermic men and 107 fertile controls found no significant difference in the frequencies of the gr/gr and the b2/b3 deletion. However, the frequency of AZFc partial duplication in the infertile group (7.0%) was significantly higher than that in the fertile control group (0.9%) and the general Taiwanese population (1.7%). Our results indicate that AZFc partial deletion and partial duplication are common polymorphisms in Han Chinese, and that the AZFc partial duplication, but not the AZFc partial deletion, is a risk factor for male infertility in the Taiwanese population. |
| Author | Huang, William J. Cantor, Rita M. Chiang, Han-Sun Yeh, Shauh-Der Kuo, Pao-Lin Hsu, Tuan-Yi Lin, Yi-Wen Yu, Yueh-Hsiang Yen, Pauline H. Chia-Ling Hsu, Lea Hsiao, Kuang-Nan |
| Author_xml | – sequence: 1 givenname: Yi-Wen surname: Lin fullname: Lin, Yi-Wen organization: Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan – sequence: 2 givenname: Lea surname: Chia-Ling Hsu fullname: Chia-Ling Hsu, Lea organization: Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan – sequence: 3 givenname: Pao-Lin surname: Kuo fullname: Kuo, Pao-Lin organization: Department of Obstetrics and Gynecology, National Cheng Kung University, Tainan, Taiwan – sequence: 4 givenname: William J. surname: Huang fullname: Huang, William J. organization: Department of Urology, National Yang-Ming University, Taipei Veterans General Hospital, Taipei, Taiwan – sequence: 5 givenname: Han-Sun surname: Chiang fullname: Chiang, Han-Sun organization: College of Medicine, Fu Jen Catholic University, Taipei, Taiwan – sequence: 6 givenname: Shauh-Der surname: Yeh fullname: Yeh, Shauh-Der organization: Department of Urology, Taipei Medical University, Taipei, Taiwan – sequence: 7 givenname: Tuan-Yi surname: Hsu fullname: Hsu, Tuan-Yi organization: Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan – sequence: 8 givenname: Yueh-Hsiang surname: Yu fullname: Yu, Yueh-Hsiang organization: Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan – sequence: 9 givenname: Kuang-Nan surname: Hsiao fullname: Hsiao, Kuang-Nan organization: Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan – sequence: 10 givenname: Rita M. surname: Cantor fullname: Cantor, Rita M. organization: Department of Human Genetics, University of California at Los Angeles, Los Angeles, California – sequence: 11 givenname: Pauline H. surname: Yen fullname: Yen, Pauline H. email: pyen@ibms.sinica.edu.tw organization: Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/17285591$$D View this record in MEDLINE/PubMed |
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| References | Holtzman DM, Epstein CJ. 1992. The molecular genetics of Down syndrome. Mol Genet Med 2:105-120. Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C. 1996. Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767-1775. Vincent MC, Daudin M, De MP, Massat G, Mieusset R, Pontonnier F, Calvas P, Bujan L, Bourrouillou G. 2002. Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience. J Androl 23: 18-22. Page DC. 2004. 2003 Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome. Am J Hum Genet 74:399-402. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC. 2000. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256-267. Wen B, Li H, Lu D, Song X, Zhang F, He Y, Li F, Gao Y, Mao X, Zhang L, Qian J, Tan J, Jin J, Huang W, Deka R, Su B, Chakraborty R, Jin L. 2004. Genetic evidence supports demic diffusion of Han culture. Nature 431: 302-305. Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK. 2005. The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. EMBO J 24:2656-2666. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. 1994. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228. Repping S, de Vries JW, van Daalen SK, Korver CM, Leschot NJ, van der Veen F. 2003a. The use of spermHALO-FISH to determine DAZ gene copy number. Mol Hum Reprod 9:183-188. 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. 2003b. 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. 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. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC. 1995. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393. Karafet TM, Osipova LP, Gubina MA, Posukh OL, Zegura SL, Hammer MF. 2002. High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life. Hum Biol 74:761-789. Vogt PH. 2005. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11: 319-336. 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. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, Zuffardi O, Camerino G. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501. Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH. 2005. Polymorphisms associated with the DAZ genes on the human Y chromosome. Genomics 86:431-438. Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Page DC. 2003. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423: 873-876. Zhang F, Li Z, Wen B, Jiang J, Shao M, Zhao Y, He Y, Song X, Qian J, Lu D, Jin L. 2006. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet 70:304-313. Krausz C, Forti G, McElreavey K. 2003. The Y chromosome and male fertility and infertility. Int J Androl 26:70-75. Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD, Page DC. 2002. Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci USA 99:8707-8712. Lahn BT, Page DC. 1997. Functional coherence of the human Y chromosome. Science 278:675-680. Y Chromosome Consortium. 2002. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339-348. Yang HC, Lin CH, Hsu CL, Hung SI, Wu JY, Pan WH, Chen YT, Fann CS. 2006. A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians. J Biomed Sci 13: 489-498. 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. Jobling MA, Tyler-Smith C. 2003. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612. Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. 2002. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8:286-298. Pan WH, Fann CS, Wu JY, Hung YT, Ho MS, Tai TH, Chen YJ, Liao CJ, Yang ML, Cheng AT, Chen YT. 2006. Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. Hum Hered 61:27-30. Simoni M, Bakker E, Krausz C. 2004. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-249. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837. 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. Lin YW, Hsu CL, Yen PH. 2006. A two-step protocol for the detection of rearrangements at the AZFc region on the human Y chromosome. Mol Hum Reprod 12:347-351. 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. Writzl K, Zorn B, Peterlin B. 2005. Copy number of DAZ genes in infertile men. Fertil Steril 84:1522-1525. Yen PH, Chai NN, Salido EC. 1997. The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions. Mamm Genome 8:756-759. 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 12:269-273. Karafet TM, Lansing JS, Redd AJ, Reznikova S, Watkins JC, Surata SP, Arthawiguna WA, Mayer L, Bamshad M, Jorde LB, Hammer MF. 2005. Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Hum Biol 77:93-114. Giachini C, Guarducci E, Longepied G, Degl'Innocenti S, Becherini L, Forti G, Mitchell MJ, Krausz C. 2005. The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet 42:497-502. 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. 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. 1997; 278 2006; 70 2004; 41 2004; 83 2006; 12 2002; 74 2000; 26 2006; 13 2000; 67 2004; 27 2006; 38 2002; 12 2002; 8 2002; 99 1995; 10 2005; 84 2005; 42 2005; 86 2001; 29 2005; 24 2003a; 9 1997; 8 2003b; 35 2004; 431 2004; 74 2006; 61 2002; 23 2003; 4 2003; 26 2003; 423 1996; 5 1994; 3 1992; 2 2005; 77 2005; 11 1994; 7 Skaletsky (10.1002/humu.20473-BIB31) 2003; 423 Chance (10.1002/humu.20473-BIB3) 1994; 3 Repping (10.1002/humu.20473-BIB26) 2004; 83 Collier (10.1002/humu.20473-BIB4) 2005; 24 Giachini (10.1002/humu.20473-BIB7) 2005; 42 Reijo (10.1002/humu.20473-BIB23) 1995; 10 Simoni (10.1002/humu.20473-BIB30) 2004; 27 Fernandes (10.1002/humu.20473-BIB5) 2002; 8 Wen (10.1002/humu.20473-BIB35) 2004; 431 Rozen (10.1002/humu.20473-BIB28) 2003; 423 Repping (10.1002/humu.20473-BIB27) 2006; 38 Writzl (10.1002/humu.20473-BIB36) 2005; 84 Zhang (10.1002/humu.20473-BIB40) 2006; 70 Carvalho (10.1002/humu.20473-BIB2) 2006; 12 Repping (10.1002/humu.20473-BIB24) 2003; 9 Holtzman (10.1002/humu.20473-BIB8) 1992; 2 Jobling (10.1002/humu.20473-BIB10) 2003; 4 Repping (10.1002/humu.20473-BIB25) 2003; 35 Vincent (10.1002/humu.20473-BIB33) 2002; 23 Lin (10.1002/humu.20473-BIB17) 2005; 86 Jobling (10.1002/humu.20473-BIB9) 1996; 5 Lynch (10.1002/humu.20473-BIB19) 2005; 11 Bardoni (10.1002/humu.20473-BIB1) 1994; 7 Karafet (10.1002/humu.20473-BIB12) 2005; 77 Lahn (10.1002/humu.20473-BIB15) 1997; 278 Fernandes (10.1002/humu.20473-BIB6) 2004; 74 Yang (10.1002/humu.20473-BIB38) 2006; 13 Karafet (10.1002/humu.20473-BIB11) 2002; 74 Krausz (10.1002/humu.20473-BIB13) 2003; 26 Pan (10.1002/humu.20473-BIB22) 2006; 61 Saxena (10.1002/humu.20473-BIB29) 2000; 67 Yen (10.1002/humu.20473-BIB39) 1997; 8 Lin (10.1002/humu.20473-BIB18) 2006; 12 Machev (10.1002/humu.20473-BIB20) 2004; 41 Kuroda-Kawaguchi (10.1002/humu.20473-BIB14) 2001; 29 Vogt (10.1002/humu.20473-BIB34) 2005; 11 Lahn (10.1002/humu.20473-BIB16) 2002; 99 Page (10.1002/humu.20473-BIB21) 2004; 74 Underhill (10.1002/humu.20473-BIB32) 2000; 26 Y Chromosome Consortium (10.1002/humu.20473-BIB37) 2002; 12 |
| References_xml | – reference: Zhang F, Li Z, Wen B, Jiang J, Shao M, Zhao Y, He Y, Song X, Qian J, Lu D, Jin L. 2006. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet 70:304-313. – reference: 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. 2003b. 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. – reference: Yang HC, Lin CH, Hsu CL, Hung SI, Wu JY, Pan WH, Chen YT, Fann CS. 2006. A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians. J Biomed Sci 13: 489-498. – reference: 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. – reference: Jobling MA, Tyler-Smith C. 2003. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612. – reference: Page DC. 2004. 2003 Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome. Am J Hum Genet 74:399-402. – reference: 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 12:269-273. – reference: Lin YW, Hsu CL, Yen PH. 2006. A two-step protocol for the detection of rearrangements at the AZFc region on the human Y chromosome. Mol Hum Reprod 12:347-351. – reference: Yen PH, Chai NN, Salido EC. 1997. The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions. Mamm Genome 8:756-759. – reference: Giachini C, Guarducci E, Longepied G, Degl'Innocenti S, Becherini L, Forti G, Mitchell MJ, Krausz C. 2005. The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet 42:497-502. – reference: Wen B, Li H, Lu D, Song X, Zhang F, He Y, Li F, Gao Y, Mao X, Zhang L, Qian J, Tan J, Jin J, Huang W, Deka R, Su B, Chakraborty R, Jin L. 2004. Genetic evidence supports demic diffusion of Han culture. Nature 431: 302-305. – reference: Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. 2002. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8:286-298. – reference: Writzl K, Zorn B, Peterlin B. 2005. Copy number of DAZ genes in infertile men. Fertil Steril 84:1522-1525. – reference: Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD, Page DC. 2002. Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci USA 99:8707-8712. – reference: Pan WH, Fann CS, Wu JY, Hung YT, Ho MS, Tai TH, Chen YJ, Liao CJ, Yang ML, Cheng AT, Chen YT. 2006. Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. Hum Hered 61:27-30. – reference: 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. – reference: Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C. 1996. Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767-1775. – reference: 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. – reference: Vincent MC, Daudin M, De MP, Massat G, Mieusset R, Pontonnier F, Calvas P, Bujan L, Bourrouillou G. 2002. Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience. J Androl 23: 18-22. – reference: 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. – reference: Karafet TM, Osipova LP, Gubina MA, Posukh OL, Zegura SL, Hammer MF. 2002. High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life. Hum Biol 74:761-789. – reference: Lahn BT, Page DC. 1997. Functional coherence of the human Y chromosome. Science 278:675-680. – reference: 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. – reference: Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC. 2000. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256-267. – reference: Y Chromosome Consortium. 2002. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339-348. – reference: Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. 1994. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228. – reference: Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC. 1995. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393. – reference: Repping S, de Vries JW, van Daalen SK, Korver CM, Leschot NJ, van der Veen F. 2003a. The use of spermHALO-FISH to determine DAZ gene copy number. Mol Hum Reprod 9:183-188. – reference: Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH. 2005. Polymorphisms associated with the DAZ genes on the human Y chromosome. Genomics 86:431-438. – reference: Holtzman DM, Epstein CJ. 1992. The molecular genetics of Down syndrome. Mol Genet Med 2:105-120. – reference: 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. – reference: Krausz C, Forti G, McElreavey K. 2003. The Y chromosome and male fertility and infertility. Int J Androl 26:70-75. – reference: Simoni M, Bakker E, Krausz C. 2004. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-249. – reference: Karafet TM, Lansing JS, Redd AJ, Reznikova S, Watkins JC, Surata SP, Arthawiguna WA, Mayer L, Bamshad M, Jorde LB, Hammer MF. 2005. Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Hum Biol 77:93-114. – reference: Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837. – reference: Vogt PH. 2005. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11: 319-336. – reference: Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK. 2005. The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. 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| Snippet | The Azoospermia Factor c (AZFc) region on the Y chromosome long arm is one of the least stable regions in the human genome. It consists almost entirely of very... |
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| SubjectTerms | AZFc Blotting, Southern China Chromosomes, Human, Y DAZ DAZL Ethnic Groups Gene Duplication Gene Frequency Gene Rearrangement Haplotypes Humans Infertility, Male - genetics Male male infertility Polymerase Chain Reaction Risk Factors segmental duplication Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Spermatogenesis - genetics Taiwan Y chromosome |
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| Title | Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan |
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