TSPY gene copy number as a potential new risk factor for male infertility

Reproductive BioMedicine Online - Tập 14 Số 5 - Trang 579-587 - 2007
Radek Vodička1, Radek Vrtěl1, Ladislav Dušek2, Arvind R. Singh1, Kateřina Křížová1, Veronika Svačinová1, Věra Hořínová3, Jiřı́ Dostál4, I Oborná4, Jana Březinová4, A Sobek5, J Santavý1
1Department of Medical Genetics and Fetal Medicine, University Hospital Olomouc, IP Pavlova 6, 775 20 Olomouc
2Centre of Biostatics and Analyses, Masaryk University Brno, Kamenice 126/3, Brno
3Clinic of Reproductive Medicine and Gynaecology, U lomu 5, 760 01 Zlin
4Centre for Assisted Reproduction, Department of Obstetrics and Gynecology, University Hospital, IP Pavlova 6, 775 20 Olomouc
5Fertimed, Infertility Centre, Boleslavova 246/2, 772 00 Olomouc, Czech Republic

Tóm tắt

Từ khóa


Tài liệu tham khảo

Altman, 1991, 619

Bland, 1986, Statistical methods for assessing agreement between two methods of clinical measurement, Lancet, 1, 307, 10.1016/S0140-6736(86)90837-8

Canela, 2003, The SET protein regulates G2/M transition by modulating cyclin B-cyclin-dependent kinase 1 activity, Journal of Biological Chemistry, 278, 1158, 10.1074/jbc.M207497200

Chai, 2001, SET-related cell division autoantigen-1 (CDA1) arrests cell growth, Journal of Biological Chemistry, 276, 33665, 10.1074/jbc.M007681200

Chai, 1997, Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome, Genomics, 45, 355, 10.1006/geno.1997.4944

Chatzimeletiou, 2006, Paternal inheritance of a 16qh-polymorphism in a patient with repeated IVF failure, Reproductive BioMedicine Online, 13, 864, 10.1016/S1472-6483(10)61036-X

Dechend, 2000, TSPY variants in six loci on the human Y chromosome, Cytogenetics and Cell Genetics, 91, 67, 10.1159/000056821

Delbridge, 2004, TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X–implications for Y chromosome evolution, Chromosome Research, 12, 345, 10.1023/B:CHRO.0000034134.91243.1c

Ferlin, 2005, Association of partial AZFc region deletions with spermatogenic impairment and male infertility, Journal of Medical Genetics, 42, 209, 10.1136/jmg.2004.025833

Ferlin, 2003, The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men, Journal of Medical Genetics, 40, 18, 10.1136/jmg.40.1.18

Huynh, 2002, Selected genetic factors associated with male infertility, Human Reproduction Update, 8, 183, 10.1093/humupd/8.2.183

Jequier, 2006, The importance of diagnosis in the clinical management of infertility in the male, Reproductive BioMedicine Online, 13, 331, 10.1016/S1472-6483(10)61436-8

Kent-First, 1999, Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection, Molecular Reproduction and Development, 53, 27, 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W

Kersemaekers, 2005, Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY, Human Pathology, 36, 512, 10.1016/j.humpath.2005.02.016

Krick, 2003, Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes, Gene, 302, 11, 10.1016/S0378-1119(02)01104-6

Lau, 1999, Gonadoblastoma, testicular and prostate cancers, and the TSPY gene, American Journal of Human Genetics, 6, 921, 10.1086/302353

Lau, 2003, Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer, Cytogenetic and Genome Research, 101, 250, 10.1159/000074345

Manz, 1993, TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome, Genomics, 17, 726, 10.1006/geno.1993.1393

Metz, 1986, ROC methodology in radiologic imaging, Investigative Radiology, 21, 720, 10.1097/00004424-198609000-00009

Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Research, 16, 1215, 10.1093/nar/16.3.1215

Ozbun, 2005, Differentially expressed nucleolar TGF-beta1 target (DENTT) shows tissue-specific nuclear and cytoplasmic localization and increases TGF-beta1-responsive transcription in primates, Biochimice et Biophysica acta, 1728, 163, 10.1016/j.bbaexp.2005.02.010

Ozbun, 2003, Differentially expressed nucleolar TGF-beta1 target (DENTT) in mouse development, Developmental Dynamics, 226, 491, 10.1002/dvdy.10257

Pryor, 1997, Microdeletions in the Y chromosome of infertile men, New England Journal of Medicine, 336, 534, 10.1056/NEJM199702203360802

Ratti, 2000, Characterization of a new TSPY gene family member in Yq (TSPYq1), Cytogenetics and Cell Genetics, 88, 159, 10.1159/000015510

Reijo, 1995, Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene, Nature Genetics, 10, 383, 10.1038/ng0895-383

Schnieders, 1996, Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues, Human Molecular Genetics, 5, 1801, 10.1093/hmg/5.11.1801

Skaletsky, 2003, The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes, Nature, 423, 825, 10.1038/nature01722

Tyler-Smith, 1988, Structure of a hypervariable tandemly repeated DNA sequence on the short arm of the human Y chromosome, Journal of Molecular Biology, 4, 837, 10.1016/0022-2836(88)90110-6

Vijayakumar, 2006, Detection of recurrent copy number loss at Yp11.2 involving TSPY gene cluster in prostate cancer using array-based comparative genomic hybridization, Cancer Research, 66, 4055, 10.1158/0008-5472.CAN-05-3822

Vodicka, 2004, Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients-alternative to real-time PCR, Journal of Biochemical and Biophysical Methods, 60, 151, 10.1016/j.jbbm.2004.05.004

Vogel, 1998, Structure and function of TSPY, the Y-chromosome gene coding for the ‘testis-specific protein’, Cytogenetics and Cell Genetics, 80, 209, 10.1159/000014982

Vogt, 2005, Introduction: basic science meets the clinic, Reproductive BioMedicine Online, 10, 11, 10.1016/S1472-6483(10)60800-0

Vogt, 1996, Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11, Human Molecular Genetics, 5, 933, 10.1093/hmg/5.7.933

Wang, 2004, A spermatogenesis-related gene expression profile in human spermatozoa and its potential clinical applications, Journal of Molecular Medicine, 82, 317, 10.1007/s00109-004-0526-3

Yen, 2004, Putative biological functions of the DAZ family, International Journal of Andrology, 27, 125, 10.1111/j.1365-2605.2004.00469.x

Yin, 2005, TSPY is a cancer testis antigen expressed in human hepatocellular carcinoma, British Journal of Cancer, 4, 458, 10.1038/sj.bjc.6602716

Zar, 1984, 556