ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men

Human Reproduction

Volumn 25, Issue 6, 2010, Pages 1398-1403

  Bonaparte, E ^a,b   Moretti, M ^a   Colpi, G M ^c   Nerva, F ^c   Contalbi, G ^c   Vaccalluzzo, L ^c   Tabano, S ^a   Grati, F R ^b   Gazzano, G ^c   Sirchia, S M ^a   Simoni, G ^b   Gallina, A ^a   Miozzo, M ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b TOMA Advanced Biomedical Assays SpA   (Italy)

^c SAN PAOLO HOSPITAL   (Italy)

Author keywords

Azoospermia; ESX1; Sertoli cell only syndrome; Sperm retrieval; Spermatogenic markers

Indexed keywords

ESX1 PROTEIN; HOMEODOMAIN PROTEIN; MESSENGER RNA; MOLECULAR MARKER; UNCLASSIFIED DRUG;

ARTICLE; AZOOSPERMIA; CPG ISLAND; DNA METHYLATION; EPIGENETICS; GENE EXPRESSION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPOSPERMATOGENESIS; INCOMPLETE MATURATION ARREST; MALE; OBSTRUCTIVE AZOOSPERMIA; PREDICTION; PROMOTER REGION; PYROSEQUENCING; RELIABILITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEMEN ABNORMALITY; SERTOLI CELL ONLY SYNDROME; SPERMATOGENESIS; TESTICULAR SPERM EXTRACTION; TESTIS;

MUS;

EID: 77952867161     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/deq074     Document Type: Article

References (27)

1. Amer M, Haggar SE, Moustafa T, Abd El-Naser T, Zohdy W. Testicular sperm extraction: impact of testicular histology on outcome, number of biopsies to be performed and optimal time for repetition. Hum Reprod 1999;14:3030-3034.
2. Ben-Yosef D, Yogev L, Hauser R, Yavetz H, Azem F, Yovel I, Lessing JB, Amit A. Testicular sperm retrieval and cryopreservation prior to initiating ovarian stimulation as the first line approach in patients with non-obstructive azoospermia. Hum Reprod 1999;14:1794-1801.
3. Branford WW, Zhao GQ, Valerius MT, Weinstein M, Birkenmeier EH, Rowe LB, Potter SS. Spx1, a novel X-linked homeobox gene expressed during spermatogenesis. Mech Dev 1997;65:87-98.
4. Casals T, Bassas L, Egozcue S, Ramos MD, Giménez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 2000;15:1476-1483.
5. Colpi GM, Colpi EM, Piediferro G, Giacchetta D, Gazzano G, Castiglioni FM, Magli MC, Gianaroli L. Microsurgical TESE versus conventional TESE for ICSI in non-obstructive azoospermia: a randomized controlled study. Reprod Biomed Online 2009;18:315-319.
6. Daggag H, Svingen T, Western PS, van den Bergen JA, McClive PJ, Harley VR, Koopman P, Sinclair AH. The Rhox homeobox gene family shows sexually dimorphic and dynamic expression during mouse embryonic gonad development. Biol Reprod 2008;79:468-474.
7. Diemer T, Desjardins C. Developmental and genetic disorders in spermatogenesis. Hum Reprod Update 1999;5:120-140.
8. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002;17:13-16.
9. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W, EAU Working Group on Male Infertility. EAU guidelines on male infertility. Eur Urol 2005;48:703-711.
10. El-Haggar S, Mostafa T, Abdel Nasser T, Hany R, Abdel Hadi A. Fine needle aspiration vs. mTESE in non-obstructive azoospermia. Int J Androl 2008;31:595-601.
11. Fohn LE, Behringer RR. ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis. Genomics 2001; 74:105-108.
12. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226-239.
13. Grati FR, Sirchia SM, Gentilin B, Rossella F, Ramoscelli L, Antonazzo P, Cavallari U, Bulfamante G, Cetin I, Simoni G Miozzo M. Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies. Eur J Hum Genet 2004; 12:272-278.
14. Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C et al. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA 1992;89:8190-8194.
15. Hiort O, Holterhus PM, Horter T, Schulze W, Kremke B, Bals-Pratsch M, Sinnecker GH, Kruse K. Significance of mutations in the androgen receptor gene in males with idiopathic infertility. J Clin Endocrinol Metab 2000;85:2810-2815.
16. Lee JH, Lee DR, Yoon SJ, Chai YG, Roh SI, Yoon HS. Expression of DAZ (deleted in azoospermia), DAZL1 (DAZ-like) and protamine-2 in testis and its application for diagnosis of spermatogenesis in non-obstructive azoospermia. Mol Hum Reprod 1998;4:827-834.
17. Li Y, Lemaire P, Behringer RR. Esx1, a novel X chromosome-linked homeobox gene expressed in mouse extraembryonic tissues and male germ cells. Dev Biol 1997;188:85-95.
18. Li Y, Behringer RR. Esx1 is an X-chromosome-imprinted regulator of placental development and fetal growth. Nat Genet 1998;20: 309-311.
19. McLachlan RI, Rajpert-De Meyts E, Hoei-Hansen CE, de Kretser DM, Skakkebaek NE. Histological evaluation of the human testis-approaches to optimizing the clinical value of the assessment: mini review. Hum Reprod 2007;22:2-16.
20. Ozawa H, Ashizaw S, Naito M, Yanagihara M, Ohnishi N, Maeda T, Matsuda Y, Jo Y, Higashi H, Kakita A et al. Paired-like homeodomain protein ESXR1 possesses a cleavable C-terminal region that inhibits cyclin degradation. Oncogene 2004;23:6590-6602.
21. Schlegel PN. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod 1999; 14:131-135.
22. Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi IT. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 1997;15:205-206. (Pubitemid 27061645)
23. Torgerson DG, Singh RS. Sex-linked mammalian sperm proteins evolve faster than autosomal ones. Mol Biol Evol 2003;20:1705-1709.
24. Verheyen G, Vernaeve V, Van Landuyt L, Tournaye H, Devroey P, Van Steirteghem A. Should diagnostic testicular sperm retrieval followed by cryopreservation for later ICSI be the procedure of choice for all patients with nonobstructive azoospermia? Hum Reprod 2004; 19:2822-2830.
25. Vernaeve V, Verheyen G, Goossens A, Van Steirteghem A, Devroey P, Tournaye H. How successful is repeat testicular sperm extraction in patients with azoospermia? Hum Reprod 2006;21:1551-1554.
26. Wang X, Zhang J. Rapid evolution of primate ESX1, an X-linked placenta-and testis-expressed homeobox gene. Hum Mol Genet 2007;16: 2053-2060.
27. Wayne CM, MacLean JA, Cornwall G, Wilkinson MF. Two novel human X-linked homeobox genes, hPEPP1 and hPEPP2, selectively expressed in the testis. Gene 2002;301:1-11.