Identification of new breakpoints in AZFb and AZFc

Molecular Human Reproduction

Volumn 14, Issue 4, 2008, Pages 251-258

  Costa, Paula ^a   Gonçalves, Rita ^b   Ferrás, Cristina ^a   Fernandes, Susana ^a   Fernandes, Ana Teresa ^b   Sousa, Mário ^a,c   Barros, Alberto ^a,c  

^a University of Porto   (Portugal)

^b UNIVERSITY OF MADEIRA   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

AZFb deletions; AZFb+c deletions; Non obstructive azoospermia; Y chromosome

Indexed keywords

AZOOSPERMIA FACTOR; GENE PRODUCT;

ADULT; ARTICLE; AZOOSPERMIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; GENE DELETION; HAPLOTYPE; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; MALE; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE TAGGED SITE; SINGLE NUCLEOTIDE POLYMORPHISM; Y CHROMOSOME;

ADULT; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA; SEQUENCE TAGGED SITES;

EID: 43049114970     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gan014     Document Type: Article

References (44)

1. Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: Male infertility and recurrent polymorphism. J Med Genet 2000;37:752-758.
2. Cruciani F, Santolamazza P, Shen P, Macaulay V, Mond P, Olckers A, Modiano D, Holmes S, Destro-Bisol G, Coia V et al. A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet 2002;70: 1197-1214.
3. Dada R, Gupta NP, Kucheria K. Yq microdeletions - azoospermia factor candidate genes and spermatogenic arrest. J Biomol Tech 2004;15 176-183.
4. Edwards RG, Bishop CE. On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol Hum Reprod 1997;3:549-554.
5. Ferlin A, Moro E, Garolla A, Forests C. Human male infertility and Y chromosome deletions: Role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum Reprod 1999;14:1710-1716.
6. Ferlin A, Arredi B, Speltra E, Çazzadore C, Selice R, Garolla A, Lenzi A, Forests 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.
7. Fernandes S, Huellen K, Gonçalves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M et al. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 2002;8:286-298.
8. Fernandes AT, Fernandes S, Gonçalves R, Sá R, Costa P, Rosa A, Ferras C, Sousa M, Brehm A, Barros A. DAZ gene copies: Evidence of Y chromosome evolution. Mol Hum Reprod 2006;12:519-523.
9. Ferrás C, Fernandes S, Marques CJ, Carvalho F, Alves C, Silva J, Sousa M, Barcos A. AZF and DAZ gene copy specific deletion analysis in maturation arrest and Sertoli cell only syndrome. Mol Hum Reprod 2004;10:755-761.
10. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001a;22:226-239.
11. Foresta C, Moro E, Ferlin A. Prognostic value of Y deletion analysis. The role of current methods. Hum Reprod 2001b;16:1543-1547.
12. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997;12:1635-1641.
13. Gonçalves R, Freitas A, Branco M, Rosa A, Fernandes AT, Zhivotovsky LA, Underhill PA, Kivisild T, Brehm A. Y-chromosome lineages from Portugal, Madeira and Acores record elements of Sephardim and Berber ancestry. Ann Hum Genet 2005;69:443-454.
14. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003;18:1660-1665.
15. Jobling MA, Tyler-Smith C. The human Y chromosome: An evolutionary marker comes of age. Nat Rev Genet 2003;4:598-612.
16. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000;9:2563-2572.
17. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, Kleiman S, Yavetz H, Krause W, Küpker W et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 2001;7:987-994.
18. Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, Varriale G, Forti G. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet 2006;15:2673-2681.
19. 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.
20. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997;278:675-679.
21. Müllenbach R, Lagoda PJ, Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet 1989;5 391.
22. Page DC, de Martinville B, Barker D, Wyman A, White R, Francke U, Botstein D. Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 1982;79: 5352-5356.
23. Reijo R, Lee T-Y, Sato 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.
24. 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.
25. Roth DB, Wilson JH. Nonhomologous recombination in mammalian cells: Role for short sequence homologies in the joining reaction. Mol Cell Biol 1986;6:4295-4304.
26. Roth DB, Porter TN, Wilson JH. Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol 1985;5:2599-2607.
27. Schneider S, Kueffer JM, Roessli D, Excoffier L. Arlequin: A software for population genetic data analysis. University of Geneva, Switzerland, Genetics and Biometry Laboratory, 2002.
28. Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S et al. The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A Y chromosome perspective. Science 2000;290 1155-1159.
29. Semino O, Santachiara-Benerecetti AS, Falaschi F, Cavalli-Sforza LL, Underhill PA. Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 2002;70: 265-268.
30. Silber SJ, Alagappan R, Brown LG, Page DC. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod 1998;13:3332-3337.
31. 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.
32. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R, Page DC. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 2000;9:2291-2296.
33. The Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002;12:339-348.
34. Thode S, Schäfer A, Pfeiffer P, Vielmetter W. A novel pathway of DNA end-to-end joining. Cell 1990;60:921-928.
35. 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.
36. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, McPherson JD, Wylie K, Sekhon M, Kucaba TA et al. A physical map of the human Y chromosome. Nature 2001;409 943-945.
37. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P et al. Y chromosome sequence variation and the history of human populations. Nat Genet 2000;26:358-361.
38. Underhill PA, Passarino G, Lin AA, Shen P, Mirazón Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL. The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 2001;65:43-62.
39. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: History and update. Mol Hum Reprod 1998;4 739-744.
40. Vogt PH, Fernandes S. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis? Acta Pathol Microbiol Immunol Scand 2003;111 115-127.
41. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn 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.
42. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, Page DC. The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 1992;258:52-59.
43. Waldman AS, Liskay RM. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol Cell Biol 1988;8 5350-5357.
44. Yen PH. A long-range restriction map of deletion interval 6 of the human Y chromosome: A region frequently deleted in azoospermic males. Genomics 1998;54:5-12.