Molecular Human Reproduction, Vol. 7, No. 1, 11-20,
January 2001
© 2001 European Society of Human Reproduction and Embryology
Testis and spermatogenesis |
Identification of human candidate genes for male infertility by digital differential display
1 Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, 2 Fertility Clinic, Department of Gynecology and Obsterics, Odense University Hospital, DK-5000 Odense C, 3 Laboratory of Reproductive Biology, Center for Children, Women and Reproduction, Rigshospitalet, Section 5712, Blegdamsvej 9, DK-2100 Copenhagen, Denmark, 4 Department of Human Genetics, Medizinische Universitaet zu Lübeck, Ratzeburger Alle 160, D-23538 Lübeck, Germany, 5 Medical Genetics, `La Paz' Hospital, P.Castellana 261, E-28046 Madrid, Spain, 6 Human Genetisk Institut, Bartholin Bygningen, Aarhus Universitet, DK-8000 Aarhus C, Denmark, 7 Department of Clinical Genetics, University Hospital, SE-22185 Lund, Sweden, 8 Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, D-53111 Bonn, Germany, 9 Center for Medical Genetics, University Hospital, Dutch-speaking Free University of Brussels, Laarbeeklaan 101, BE-1090 Brussels, Belgium, 10 Department of Clinical Genetics, East Hospital, SE-41685 Goeteborg, Sweden, and 11 Laboratorie de Cytogenetique, Centre Hospitalier, BP 1125, F-73011 Chambery Cedex, France
Abstract
Evidence for the importance of genetic factors in male fertility is accumulating. In the literature and the Mendelian Cytogenetics Network database, 265 cases of infertile males with balanced reciprocal translocations have been described. The candidacy for infertility of 14 testis-expressed transcripts (TETs) were examined by comparing their chromosomal mapping position to the position of balanced reciprocal translocation breakpoints found in the 265 infertile males. The 14 TETs were selected by using digital differential display (electronic subtraction) to search for apparently testis-specific transcripts in the TIGR database. The testis specificity of the 14 TETs was further examined by reverse transcription–polymerase chain reaction (RT–PCR) on adult and fetal tissues showing that four TETs (TET1 to TET4) were testis-expressed only, six TETs (TET5 to TET10) appeared to be differentially expressed and the remaining four TETs (TET11 to TET14) were ubiquitously expressed. Interestingly, the two tesis expressed-only transcripts, TET1 and TET2, mapped to chromosomal regions where seven and six translocation breakpoints have been reported in infertile males respectively. Furthermore, one ubiquitously, but predominantly testis-expressed, transcript, TET11, mapped to 1p32-33, where 13 translocation breakpoints have been found in infertile males. Interestingly, the mouse mutation, skeletal fusions with sterility, sks, maps to the syntenic region in the mouse genome. Another transcript, TET7, was the human homologue of rat Tpx-1, which functions in the specific interaction of spermatogenic cells with Sertoli cells. TPX-1 maps to 6p21 where three cases of chromosomal breakpoints in infertile males have been reported. Finally, TET8 was a novel transcript which in the fetal stage is testis-specific, but in the adult is expressed in multiple tissues, including testis. We named this novel transcript fetal and adult testis-expressed transcript (FATE).
chromosomal mapping/male infertility/testis-expressed transcripts/translocation breakpoints
Notes
12 To whom correspondence should be addressed. E-mail: tommerup{at}imbg.ku.dk
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  G. M. Gibbs, K. Roelants, and M. K. O'Bryan The CAP Superfamily: Cysteine-Rich Secretory Proteins, Antigen 5, and Pathogenesis-Related 1 Proteins--Roles in Reproduction, Cancer, and Immune Defense Endocr. Rev., December 1, 2008; 29(7): 865 - 897. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Wiland, A. T. Midro, B. Panasiuk, and M. Kurpisz The Analysis of Meiotic Segregation Patterns and Aneuploidy in the Spermatozoa of Father and Son With Translocation t(4;5)(p15.1;p12) and the Prediction of the Individual Probability Rate for Unbalanced Progeny at Birth J Androl, March 1, 2007; 28(2): 262 - 272. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D Modi, C Shah, G Sachdeva, S Gadkar, D Bhartiya, and C Puri Ontogeny and cellular localization of SRY transcripts in the human testes and its detection in spermatozoa Reproduction, November 1, 2005; 130(5): 603 - 613. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Mendoza-Lujambio, P. Burfeind, C. Dixkens, A. Meinhardt, S. Hoyer-Fender, W. Engel, and J. Neesen The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse Hum. Mol. Genet., July 1, 2002; 11(14): 1647 - 1658. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. P. Leo, S. Y. Hsu, and A. J. W. Hsueh Hormonal Genomics Endocr. Rev., June 1, 2002; 23(3): 369 - 381. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Iguchi, H. Tanaka, Y. Nakamura, M. Nozaki, T. Fujiwara, and Y. Nishimune Cloning and characterization of the human tektin-t gene Mol. Hum. Reprod., June 1, 2002; 8(6): 525 - 530. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X. Jiao, P. Trifillis, and M. Kiledjian Identification of Target Messenger RNA Substrates for the Murine Deleted in Azoospermia-Like RNA-Binding Protein Biol Reprod, February 1, 2002; 66(2): 475 - 485. [Abstract] [Full Text] [PDF]
|
|