High-throughput screening for spermatogenesis candidate genes in the AZFc region of the Y chromosome by multiplex real time PCR followed by high resolution melting analysis

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Alechine, Evguenia ^a   Corach, Daniel ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

AMEL GENE; ARTICLE; AZOOSPERMIA; BPY2 GENE; CDY GENE; CONTROLLED STUDY; CSGP4LY GENE; DAZ GENE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GOLGA2LY GENE; HIGH RESOLUTION MELTING ANALYSIS; HIGH THROUGHPUT SCREENING; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PRY GENE; REAL TIME POLYMERASE CHAIN REACTION; SPERMATOGENESIS; SRY GENE; Y CHROMOSOME; CELL LINE; CHROMOSOME DELETION; GENETICS; MALE INFERTILITY; METABOLISM; PROCEDURES; SEQUENCE TAGGED SITE; TESTIS;

SEMINAL PLASMA PROTEIN;

AZOOSPERMIA; CELL LINE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; HUMANS; INFERTILITY, MALE; MALE; REAL-TIME POLYMERASE CHAIN REACTION; SEMINAL PLASMA PROTEINS; SEQUENCE DELETION; SEQUENCE TAGGED SITES; SPERMATOGENESIS; TESTIS;

EID: 84901324013     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0097227     Document Type: Article

References (29)

1. Ferlin A, Arredi B, Foresta C (2006) Genetic causes of male infertility. Reprod Toxicol 22: 133-141. (Pubitemid 43994384)
2. Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34: 119-124.
3. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5: 933-943. (Pubitemid 26232272)
4. Kumari A, Yadav SK, Ali S (2012) Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram. PLoS One 7: e41488.
5. 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. (Pubitemid 39062086)
6. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, et al. (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. (Pubitemid 135750521)
7. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837. (Pubitemid 36781267)
8. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, et al. (2007) Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 92: 762-770. (Pubitemid 46465638)
9. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, 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. (Pubitemid 33096452)
10. Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, et al. (2000) DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Biol Reprod 63: 1490-1496.
11. Huang WJ, Lin YW, Hsiao KN, Eilber KS, Salido EC, et al. (2008) Restricted expression of the human DAZ protein in premeiotic germ cells. Hum Reprod 23: 1280-1289. (Pubitemid 351770581)
12. Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, et al. (2002) Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci U S A 99: 8707-8712. (Pubitemid 34693624)
13. Wong EY, Tse JY, Yao KM, Lui VC, Tam PC, et al. (2004) Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein. Biol Reprod 70: 775-784. (Pubitemid 38236154)
14. Lahn BT, Page DC (1997) Functional coherence of the human Y chromosome. Science 278: 675-680. (Pubitemid 27464964)
15. Kozina V, Cappallo-Obermann H, Gromoll J, Spiess AN (2011) A one-step real-time multiplex PCR for screening Y-chromosomal microdeletions without downstream amplicon size analysis. PLoS One 6: e23174.
16. Noordam MJ, Westerveld GH, Hovingh SE, van Daalen SK, Korver CM, et al. (2011) Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum Mol Genet 20: 2457-2463.
17. Eischeid AC (2011) SYTO dyes and EvaGreen outperform SYBR Green in real-time PCR. BMC Res Notes 4: 263.
18. Monis PT, Giglio S, Saint CP (2005) Comparison of SYTO9 and SYBR Green I for real-time polymerase chain reaction and investigation of the effect of dye concentration on amplification and DNA melting curve analysis. Anal Biochem 340: 24-34. (Pubitemid 40404098)
19. Foresta C, Ferlin A, 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. (Pubitemid 30248601)
20. Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, et al. (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. (Pubitemid 32055354)
21. Foresta C, Moro E, Ferlin A (2001) Prognostic value of Y deletion analysis. The role of current methods. Hum Reprod 16: 1543-1547. (Pubitemid 32761729)
22. Krausz C, Giachini C, Xue Y, O'Bryan MK, Gromoll J, et al. (2009) Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J Med Genet 46: 21-31.
23. Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, et al. (2003) Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423: 873-876. (Pubitemid 36781279)
24. Fernandes S, Huellen K, Goncalves J, Dukal H, Zeisler J, et al. (2002) High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 8: 286-298. (Pubitemid 34196356)
25. Yang Y, Ma M, Li L, Su D, Chen P, et al. (2010) Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population. Int J Androl 33: 745-754.
26. Zuccarelli G, Alechine E, Caputo M, Bobillo C, Corach D, et al. (2011) Rapid screening for Native American mitochondrial and Y-chromosome haplogroups detection in routine DNA analysis. Forensic Sci Int Genet 5: 105-108.
27. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, et al. (2000) Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9: 2291-2296.
28. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
29. Oklander LI, Zunino GE, Di Fiore A, Corach D (2007) Isolation, characterization and evaluation of 11 autosomal STRs suitable for population studies in black and gold howler monkeys Alouatta caraya. Molecular Ecology Notes 7: 117-120. (Pubitemid 46046602)