AZF deletions and Y chromosomal haplogroups: History and update based on sequence

Human Reproduction Update

Volumn 11, Issue 4, 2005, Pages 319-336

  Vogt, Peter H ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b NONE   (Germany)

Author keywords

AZF deletions and amplicons in Yq11; AZF gene content and male fertility status; Y chromosomal haplogroups and branches; Y sequence polymorphisms and AZF genetic redundancy

Indexed keywords

CHROMOSOME PROTEIN; RNA BINDING PROTEIN;

AZOOSPERMIA; CHROMOSOME INVERSION; DISEASE SEVERITY; EUCHROMATIN; FREQUENCY ANALYSIS; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MALE FERTILITY; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PRIORITY JOURNAL; REVIEW; SPERMATOGENESIS; Y CHROMOSOME;

CHROMOSOMES, HUMAN, Y; GENE DELETION; HAPLOTYPES; HUMANS; INFERTILITY, MALE; MALE; SEMINAL PLASMA PROTEINS;

EID: 21244439839     PISSN: 13554786     EISSN: None     Source Type: Journal    
DOI: 10.1093/humupd/dmi017     Document Type: Review

References (134)

1. Affara NA, Florentin L, Morrison N, Kwok K, Mitchell M, Cook A, Jamieson D, Glasgow L, Meredith L, Boyd E et al. (1986) Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Res 14,5353-5373.
2. Andersson M, Page DC, Pettay D, Subrt I, Turleau C, de Grouchy J and de la Chapelle A (1988) Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet 7,2-7.
3. Armstrong SJ, Kirkham AJ and Hulten MA (1994) XY chromosome behaviour in the germ-line of the human male: a FISH analysis of spatial orientation, chromatin condensation and pairing. Chromosome Res 2,445-452.
4. Ashley T (1984) A re-examination of the case for homology between the X and Y chromosomes of mouse and man. Hum Genet 67,372-377.
5. Baarends WM, Wassenaar E, van der Laan R, Hoogerbrugge J, Sleddens-Linkels E, Hoeijmakers JHJ, de Boer P and Grootegoed JA (2005) Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol Cell Biol 25,1041-1053.
6. Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M and Camerino G (1991) A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 11,443-451.
7. Bernstein R, Wadee A, Rosendorff J, Wessels A and Jenkins T (1986) Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa. Hum Genet 74,223-239.
8. Bienvenu T, Patrat C, McElreavey K, de Almeida M and Jouannet P (2001) Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis. Ann Genet 44,125-128.
9. Bishop C, Guellaen G, Geldwerth D, Fellous M and Weissenbach J (1984) Extensive sequence homologies between Y and other human chromosomes. J Mol Biol 173,403-417.
10. Blagosklonova O, Fellmann F, Clavequin MC, Roux C and Bresson JL (2000) AZFa deletions in Sertoli-cell-only syndrome: a retrospective study. Mol Hum Reprod 6,795-799.
11. Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N and Hurles ME (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37,752-758.
12. Bosch E and Jobling MA (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12,341-347.
13. Brion M, Sobrino B, Blanco-Verea A, Lareu MV and Carracedo A (2005) Hierarchical analysis of 30 Y chromosome SNPs in European populations. Int J Legal Med 119,10-15.
14. Carvalho CM, Fujisawa M, Shirakawa T, Gotoh A, Kamidono S, Freitas Paulo T, Santos SE, Rocha J, Pena SD and Santos FR (2003) Lack of association between Y chromosome haplogroups and male infertility in Japanese men. Am J Med Genet A 116,152-158.
15. Carvalho CM, Rocha JL, Santos FR, Kleiman SE, Paz G, Yavetz H and Pena SD (2004) Y chromosome haplotypes in azoospermic Israeli men. Hum Biol 76,469-478.
16. Casanova M, Leroy P, Boucekkine C, Weissenbach J, Bishop C, Fellous M, Purrello M, Fiori G and Siniscalco M (1985) A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 230,1403-1406.
17. Chandley AC, Goetz P, Hargreave TB, Joseph AM and Speed RM (1984) On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet 38,241-247.
18. Chandley AC, Ambros P, McBeath S, Hargreave TB, Kilanowski F and Spowart G (1986) Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 73,350-353.
19. Charlesworth B (2003) The organization and evolution of the human Y chromosome. Genome Biol 4,226.
20. Cummins J (2001) Mitochondrial DNA and the Y chromosome: parallels and paradoxes. Reprod Fertil Dev 13,533-542.
21. Deininger PL, Jolly DJ, Rubin CM, Friedmann T and Schmid CW (1981) Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol 151,17-33.
22. Diekmann L, Palm K, Pfeiffer RA, Trautmann U, Scholz W, Schroers E, Vogt P and Köhler M (1992) Multiple minute marker chromosomes derived from Y indentified by FISH in an intersexual infant. Hum Genet 90,181-183.
23. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC and Fellous M (1986) Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci USA 83,7841-7844.
24. Ditton HJ, Zimmer J, Kamp C, Rajpert-De Meyts E and Vogt PH (2004) The AFZa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Hum Mol Genet 13,2333-2341.
25. Engelen JJ, Arens YH, Gondrie ET, Alofs MG, Loneus WH and Hamers AJ (2003) Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers. Am J Med Genet A 118,287-289.
26. Ewis AA, Lee J, Shinka T and Nakahori Y (2002) Microdeletions of a Y-specific marker, Yfm1, and implications for a role in spermatogenesis. J Hum Genet 47,257-261.
27. Faed MJ, Lamont MA and Baxby K (1982) Cytogenctic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J Med Genet 19,49-56.
28. Ferlin A, Moro E, Rossi A and Foresta C (2002) A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men. J Endocrinol Invest 25,RC1-RC3.
29. Ferlin A, Moro E, Rossi A, Dallapiccola B and Foresta C (2003) The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 40,18-24.
30. Ferlin A, Bettella A, Tessari A, Salata E, Dallapiccola B and Foresta C (2004) Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. Fertil Steril 81,1013-1018.
31. Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B and Foresta C (2005) Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 42,209-215.
32. Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M et al. (2002) High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8,286-298.
33. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C and 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.
34. Ferras C, Fernandes S, Marques CJ, Carvalho F, Alves C, Silva J, Sousa M and Barros A (2004) AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. Mol Hum Reprod 10,755-761.
35. Foote S, Vollrath D, Hilton A and Page DC (1992) The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258,60-66.
36. Foresta C, Ferlin A and Moro E (2000) Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet 9,1161-1169.
37. Fryns JP, Cassiman JJ and Van den Berghe H (1978) Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro. Hum Genet 44,349-355.
38. Giachini C, Guarducci E, Longepied G, Degl'Innocenti S, Becherini L, Forti G, Mitchell MJ and Krausz C (2005) The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet Epub doi: 10.1136 in press.
39. Gill TJ (2002) Evolutionary genetics and infertility. Am J Reprod Immunol 48,43-49.
40. Glaeser B, Yen PH and Schempp W (1998) Fibre-fluorescence in situ hybridization unravels apparently seven DAZ genes or pseudogenes clustered within a Y chromosome region frequently deleted in azoospermic males. Chromosome Res 6,481-486.
41. Hammer MF (1995) A recent common ancestry for human Y chromosomes. Nature 378,376-380.
42. Hammer MF and Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56,951-962.
43. Hartung M, Devictor M, Codaccioni JL and Stahl A (1988) Yq deletion and failure of spermatogenesis. Ann Genet 31,21-26.
44. Henegariu O, Pescovitz OH, Vance GH, Verbrugge J and Heerema NA (1997) A case with mosaic di-, tetra-, and octacentric ring Y chromosomes. Am J Med Genet 71,426-429.
45. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E and 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.
46. Hurles ME and Jobling MA (2001) Haploid chromosomes in molecular ecology: lessons from the human Y. Mol Ecol 10,1599-1613.
47. Hurles ME and Jobling MA (2003) A singular chromosome. Nat Genet 34,246-247.
48. Hurles ME and Tyler-Smith C (2005) Genomic disorders: the genomic basis of disease. In Lupski JR and Stankiewicz PT (eds) Humana Press Inc, Totowa, New Jersey, USA, in press.
49. Jaruzelska J, Korcz A, Wojda A, Jedrzejczak P, Bierla J, Surmacz T, Pawelczyk L, Page DC and Kotecki M (2001) Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. J Med Genet 38,798-802.
50. Jobling MA and Tyler-Smith C (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet 11,449-456.
51. Jobling MA and Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4,598-612.
52. Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ et al. (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5,1767-1775.
53. Jobling MA, Bouzekri N and Taylor PG (1998) Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet 7,643-653.
54. Jobling MA, Heyer E, Dieltjes P and de Knijff P (1999) Y chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1. Hum Mol Genet 8,2117-2120.
55. Jovelin F, Berthaud S and Lucotte G (2003) Molecular basis of the TaqI p49a,f polymorphism in the DYS1 locus containing DAZ genes. Mol Hum Reprod 9,509-516.
56. Kamp C, Hirschmann P, Voss H, Huellen K and Vogt PH (2000) Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9,2563-2572.
57. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, Kleiman S, Yavetz H, Krause W, Kupker W et al. (2001) High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 7,987-994.
58. Kao SH, Chao HT and Wei YH (1998) Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol Hum Reprod 4,657-666.
59. Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kruger C, Krawczak M, Nagy M, Dobosz T et al. (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66,1580-1588.
60. Kayser M, Kittler R, Erler A, Hedman M, Lee AC, Mohyuddin A, Mehdi SQ, Rosser Z, Stoneking M, Jobling MA et al. (2004) A comprehensive survey of human Y chromosomal microsatellites. Am J Hum Genet 74,1183-1197.
61. Kirsch S, Keil R, Edelmann A, Henegariu O, Hirschmann P, LePaslier D and Vogt PH (1996) Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11). Cytogenet Cell Genet 75,197-206.
62. Kirsch S, Weiss B, Zumbach K and Rappold G (2004) Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome. Hum Genet 114,173-181.
63. Kirsch S, Weiss B, Miner TL, Waterston RH, Clark RA, Eichler EE, Munch C, Schempp W and Rappold G (2005) Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. Genome Res 15,195-204.
64. Köhler MR and Vogt PH (1994) Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes. Chromosoma 103,324-330.
65. Krausz C, Quintana-Murci L and McElreavey K (2000) Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 15,1431-1434.
66. Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jorgensen N, Jobling MA, Rosser ZH, Skakkebaek NE and McElreavey K (2001) Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet 10,1873-1877.
67. Krausz C, Forti G and McElreavey K (2003) The Y chromosome and male fertility and infertility. Int J Androl 26,70-75.
68. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al. (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29, 279-286.
69. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K et al. (1999) Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 44,289-292.
70. Lahn BT and Page DC (1997) Functional coherence of the human Y chromosome. Science 278,675-679.
71. Landuyt van L, Lissens W, Stouffs K, Tournaye H, Van Steirteghem A, Liebaers I, Blagosklonova O and Bresson JL (2001) The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis. Mol Hum Reprod 7,691-693.
72. Liskay RM and Stachelek JL (1986) Information transfer between duplicated chromosomal sequences in mammalian cells involves contiguous regions of DNA. Proc Natl Acad Sci USA 83,1802-1806.
73. de Llanos M, Luis Ballesca J, Gazquez C, Margarit E and Oliva R (2005) High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 20,216-220.
74. Lucotte G and Ngo NY (1985) p49f, A highly polymorphic probe, that detects Taq1 RFLPs on the human Y chromosome. Nucleic Acids Res 13,8285.
75. Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14,417-422.
76. Ma K, Sharkey A, Kirsch S, Vogt P, Keil R, Hargreave TB, McBeath S and Chandley AC (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1, 29-33.
77. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K et al. (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287-1295.
78. Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM et al. (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.
79. Mathias N, Bayes M and Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3,115-123.
80. McElreavey K and Quintana-Murci L (2003) Male reproductive function and the human Y chromosome: is selection acting on the Y? Reprod Biomed Online 7,17-23.
81. Moro E, Ferlin A, Yen PH, Franchi PG, Palka G and Foresta C (2000) Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. J Clin Endocrinol Metab 85,4069-4073.
82. Ngo KY, Vergnaud G, Johnsson C, Lucotte G and Weissenbach J (1986) A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet 38,407-418.
83. Oakey R and Tyler-Smith C (1990) Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males. Genomics 7,325-330.
84. Oosthuizen CJ, Herbert JS, Vermaak LK, Brusnicky J, Fricke J, du Plessis L and Retief AE (1990) Deletion mapping of 39 random isolated Y chromosome DNA fragments. Hum Genet 85,205-210.
85. O'Reilly AJ, Affara NA, Simpson E, Chandler P, Goulmy E and Ferguson-Smith MA (1992) A molecular deletion map of the Y chromosome long arm defining X and autosomal homologous regions and the localisation of the HYA locus to the proximal region of the Yq euchromatin. Hum Mol Genet 1,379-385.
86. Papadimas J, Goulis DG, Giannouli C, Papanicolaou A, Tarlatzis B and Bontis JN (2001) Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man. Fertil Steril 76,1261-1263.
87. Paracchini S, Stuppia L, Gatta V, Palka G, Moro E, Foresta C, Mengua L, Oliva R, Ballesca JL, Kremer JA et al. (2000) Y chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions. J Endocrinol Invest 23,671-676.
88. Paracchini S, Arredi B, Chalk R and Tyler-Smith C (2002) Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. Nucleic Acids Res 30,6e27.
89. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD et al. (2000) Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24,84-87.
90. Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K, Cameron JM and Cooke HJ (1996) Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. Mamm Genome 7,835-842.
91. Quintana-Murci L, Krausz C and McElreavey K (2001a) The human Y chromosome: function, evolution and disease. Forensic Sci Int 118, 169-181.
92. Quintana-Murci L, Krausz C, Heyer E, Gromoll J, Seifer I, Barton DE, Barrett T, Skakkebaek NE, Rajpert-De Meyts E, Mitchell M et al. (2001b) The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility. Hum Genet 108, 55-58.
93. Qureshi SJ, Ross AR, Ma K, Cooke HJ, Intyre MA, Chandley AC and Hargreave TB (1996) Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod 2, 775-779.
94. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10,383-393.
95. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC and Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71,906-922.
96. 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. (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.
97. 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. (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.
98. Rives N, Simeon N, Milazzo JP, Barthelemy C and Mace B (2003) Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature. Int J Androl 26,242-249.
99. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G et al. (2000) Y chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67,1526-1543.
100. Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, Waterston RH, Wilson RK and Page DC (2003) Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423,873-876.
101. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ et al. (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature 419,832-837.
102. Sanchez JJ, Borsting C, Hallenberg C, Buchard A, Hernandez A and Morling N (2003) Multiplex PCR and minisequencing of SNPs-a model with 35 Y chromosome SNPs. Forensic Sci Int 137,74-84.
103. Sandberg AA (1985) Clinical aspects of Y chromosome abnormalities. In Progress and Topics in Cytogenetics, Vol. 6. Alan R Liss Inc, New York, Part B.
104. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14,292-299.
105. Semino O, Passarino G, Brega A, Fellous M and Santachiara-Benerecetti AS (1996) A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers. Am J Hum Genet 59,964-968.
106. Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I et al. (2000) Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod 15,2559-2562.
107. Simoni M (2001) Molecular diagnosis of Y chromosome microdeletions in Europe: state-of-the-art and quality control. Hum Reprod 16,402-409.
108. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423,825-837.
109. Solari AJ and Rey Valzacchi G (1997) The prevalence of a YY synaptonemal complex over XY synapsis in an XYY man with exclusive XYY spermatocytes. Chromosome Res 5,467-474.
110. Soudek D, Langmuir V and Stewart DJ (1973) Variation in the nonfluorescent segment of long Y chromosome. Humangenetik 18,285-290.
111. Speed RM, Vogt P, Kohler MR, Hargreave TB and Chandley AC (1993) Chromatin condensation behaviour of the Y chromosome in the human testis. I. Evidence for decondensation of distal Yq in germ cells prior to puberty with a switch to Sertoli cells in adults. Chromosoma 102,421-427.
112. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R and Page DC (1999) An azoospermic man with a de novo point mutation in the Y chromosomal gene USP9Y. Nat Genet 23,429-432.
113. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R and Page DC (2000) Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9,2291-2296.
114. Thangaraj K, Subramanian S, Reddy AG and Singh L (2003) Unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia. Am J Med Genet A 116,205-207.
115. The Y Chromosome Consortium (YCC) (2002) A nomenclature system for the tree of human Y chromosomal binary haplogroups. Genome Res 12, 339-348.
116. Tiepolo L and Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34,119-124.
117. Torroni A, Semino O, Scozzari R, Sirugo G, Spedini G, Abbas N, Fellous M and Santachiara Benerecetti AS (1990) Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes. Ann Hum Genet 54,287-296.
118. Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Deng CX and Burgoyne PS (2005) Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet 37,41-47.
119. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P et al. (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26,358-361.
120. Unnérus V, Fellmann J and De La Chapelle (1967) The length of the human Y chromosome. Cytogenetics 6,213-227.
121. Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A and Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38,109-124.
122. Vogt PH (1996) Human Y chromosome function in male germ cell development. In Advances in Developmental Biology. JAI Press Inc. 4, pp 191-257.
123. Vogt PH (1998) Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod 4,739-744.
124. Vogt PH (2004) Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 224,1-9.
125. Vogt PH (2005) Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online 10,81-93.
126. Vogt PH and Fernandes S (2003) Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis? APMIS 111,115-127.
127. Vogt P, Keil R and Kirsch S (1993) AZF-function of the human Y chromosome during spermatogenesis. In Sumner AT and Chandley AC (eds) Chromosomes Today, Vol. 11. Chapman & Hall, London, pp 227-239.
128. Vogt PH, Edelmann A, Hirschmann P and Köhler MR (1995) The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod Fertil Dev 7,685-693.
129. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5,933-943.
130. Vogt PH, Affara N, Davey P, Hammer M, Jobling MA, Lau YF, Mitchell M, Schempp W, Tyler-Smith C, Williams G et al. (1997) Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997. Cytogenet Cell Genet 79, 1-20.
131. de Vries JW, Hoffer MJ, Repping S, Hoovers JM, Leschot NJ and van der Veen F (2002) Reduced copy number of DAZ genes in subfertile and infertile men. Fertil Steril 77,68-75.
132. Yen PH (1999) Advances in Y chromosome mapping. Curr Opin Obstet Gynecol 11,275-281.
133. Yen P (2001) The fragility of fertility. Nature Genet 29,243-244.
134. Yunis E, Garcia-Conti FL, de Caballero OM and Giraldo A (1977) Yq deletion, aspermia, and short stature. Hum Genet 39,117-122.