The gr/gr deletion(s): A new genetic test in male infertility?

Journal of Medical Genetics

Volumn 42, Issue 6, 2005, Pages 497-502

  Giachini, C ^a   Guarducci, E ^a   Longepied, G ^b,c   Degl'Innocenti, S ^a   Becherini, L ^a   Forti, G ^a   Mitchell, M J ^b,c   Krausz, C ^a,d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b INSERM   (France)

^c Institut de Medecine de la Reproduction   (France)

^d Andrology Unit   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AZFC GENE; AZOOSPERMIA; CDY GENE; CONTROLLED STUDY; DAZ GENE; DAZL GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MUTATIONAL ANALYSIS; OLIGOSPERMIA; PHENOTYPE; PRIORITY JOURNAL; Y CHROMOSOME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; GENE DOSAGE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; INFERTILITY, MALE; MALE; NUCLEAR PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 20544478341     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.028191     Document Type: Article

References (23)

1. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl 2003;26:70-5.
2. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the non fluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34:119-24.
3. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G. Human chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-43.
4. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001;29:279-286.
5. 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;71:906-22.
6. 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. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-37.
7. Yen P. The fragility of fertility. Nat Genet 2001;29:243-4.
8. Vogt PH. Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 2004;224:1-9.
9. 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. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003;35:247-51.
10. Repping S, Korver CM, Gates RD, Silber S, Van der Veen F, Page DC, Rozen S. Are sequence family variants useful for identifying deletions in the human Y chromosome? Am J Hum Genet 2004;75:514-17.
11. Reijo RA, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Havatta O, De la Chapelle A, Silber S, Page DC. Diverse spermatogenetic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-93.
12. 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. 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;83:1046-52.
13. Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances A-M, Belougne J, Clemente E, Chiaroni J, Chevillard C. Durand C, Ducourneau A, Pech N, McElreavey K, Mattei M-G, Mitchell MJ. 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 2004;41:814-25.
14. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 2004;74:180-7.
15. Yen PH. Putative biological functions of the DAZ family. Int J Androl 2004;27:125-9.
16. Slee R, Grimes B, Speed RM, Taggart M, Maguire SM, Ross A, McGill NI, Sounders PT, Cooke HJ, A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype. Proc Natl Acad Sci USA 1999;96:8040-5.
17. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Corte-Real HB, De Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Golge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Norby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previdere C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA. Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 2000;67:1526-43.
18. Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos FR, Schiefenhovel W, Fretwell N, Jobling MA, Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo P, Crawford MH, Ginter EK, Evgrafov OV, Tyler-Smith C. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 1997;60:1174-83.
19. Becherini L, Guarducci E, Degl'Innocenti S, Rotondi M, Forti G, Krausz C. DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences. Int J Androl 2004;27:375-81.
20. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the Art 2004. Int J Androl 2004;27:240-9.
21. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000;15:1431-4.
22. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 1996;14:292-9.
23. Fernandes S, Huellen K, Goncolves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 2002;8:286-98.