| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
a Human Molecular
Genetics Group, University of Cambridge, Department of Pathology,
Tennis Court Road, Cambridge CB2 1QP, UK, b Department
of Genetics, University of Leicester, University Road, Leicester
LE1 7RH, UK, c Molecular Genetics Laboratory, McDonald
Institute for Archaeological Research, University of Cambridge, Downing
Street, Cambridge CB2 3ER, UK
Correspondence to: Dr Hurles, meh32{at}cam.ac.uk
Revised version received 30 June 2000;
Accepted for publication 11 July
2000
The Y chromosome provides a unique opportunity to study
mutational processes within the human genome, decoupled from the
confounding effects of interchromosomal recombination. It has been
suggested that the increased density of certain dispersed repeats on
the Y could account for the high frequency of causative microdeletions relative to single nucleotide mutations in infertile males. Previously we localised breakpoints of an AZFa
microdeletion close to two highly homologous complete human endogenous
retroviral sequences (HERV), separated by 700 kb. Here we show, by
sequencing across the breakpoint, that the microdeletion occurs in
register within a highly homologous segment between the HERVs.
Furthermore, we show that recurrent double crossovers have occurred
between the HERVs, resulting in the loss of a 1.5 kb insertion from one
HERV, an event underlying the first ever Y chromosomal polymorphism described, the 12f2 deletion. This event produces a substantially longer segment of absolute homology and as such may result in increased
predisposition to further intrachromosomal recombination. Intrachromosomal crosstalk between these two HERV sequences can thus
result in either homogenising sequence conversion or a microdeletion causing male infertility. This represents a major subclass of AZFa deletions.
This article has been cited by other articles:
|
|
 |
|
  P. Costa, R. Goncalves, C. Ferras, S. Fernandes, A. T. Fernandes, M. Sousa, and A. Barros Identification of new breakpoints in AZFb and AZFc Mol. Hum. Reprod., April 1, 2008; 14(4): 251 - 258. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Lange, H. Skaletsky, G. W. Bell, and D. C. Page MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome Nucleic Acids Res., January 11, 2008; 36(suppl_1): D809 - D814. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A C Karcanias, K Ichimura, M J Mitchell, C A Sargent, and N A Affara Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays J. Med. Genet., July 1, 2007; 44(7): 429 - 436. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Jobling, I. C. C. Lo, D. J. Turner, G. R. Bowden, A. C. Lee, Y. Xue, D. Carvalho-Silva, M. E. Hurles, S. M. Adams, Y. M. Chang, et al. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y Hum. Mol. Genet., February 1, 2007; 16(3): 307 - 316. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Q. P. Vong, Y. Li, Y.-F. C. Lau, M. Dym, O. M. Rennert, and W.-Y. Chan Structural Characterization and Expression Studies of Dby and Its Homologs in the Mouse J Androl, September 1, 2006; 27(5): 653 - 661. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. H. Vogt AZF deletions and Y chromosomal haplogroups: history and update based on sequence Hum. Reprod. Update, July 1, 2005; 11(4): 319 - 336. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Stouffs, W. Lissens, H. Tournaye, A. Van Steirteghem, and I. Liebaers The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion Hum. Reprod., July 1, 2005; 20(7): 1887 - 1896. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T E King, E Bosch, S M Adams, E J Parkin, Z H Rosser, and M A Jobling Inadvertent diagnosis of male infertility through genealogical DNA testing J. Med. Genet., April 1, 2005; 42(4): 366 - 368. [Full Text] [PDF]
|
|
|
|
|
|
G. Vinci, F. Raicu, L. Popa, O. Popa, R. Cocos, and K. McElreavey A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia Mol. Hum. Reprod., April 1, 2005; 11(4): 295 - 298. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H.J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts, and P.H. Vogt The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control Hum. Mol. Genet., October 1, 2004; 13(19): 2333 - 2341. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Bosch, M. E. Hurles, A. Navarro, and M. A. Jobling Dynamics of a Human Interparalog Gene Conversion Hotspot Genome Res., May 1, 2004; 14(5): 835 - 844. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Frydelund-Larsen, P. H. Vogt, H. Leffers, A. Schadwinkel, G. Daugaard, N. E. Skakkebaek, and E. Rajpert-De Meyts No AZF deletion in 160 patients with testicular germ cell neoplasia Mol. Hum. Reprod., September 1, 2003; 9(9): 517 - 521. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Repping, J. W.A. de Vries, S. K.M. van Daalen, C. M. Korver, N. J. Leschot, and F. van der Veen The use of spermHALO-FISH to determine DAZ gene copy number Mol. Hum. Reprod., April 1, 2003; 9(4): 183 - 188. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Bosch and M. A. Jobling Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility Hum. Mol. Genet., February 1, 2003; 12(3): 341 - 347. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. STANKIEWICZ, K. INOUE, W. BI, K. WALZ, S.-S. PARK, N. KUROTAKI, C.J. SHAW, P. FONSECA, J. YAN, J.A. LEE, et al. Genomic Disorders: Genome Architecture Results in Susceptibility to DNA Rearrangements Causing Common Human Traits Cold Spring Harb Symp Quant Biol, January 1, 2003; 68(0): 445 - 454. [Abstract] [PDF]
|
|
|
|
|
|
A Ferlin, E Moro, A Rossi, B Dallapiccola, and C Foresta The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men J. Med. Genet., January 1, 2003; 40(1): 18 - 24. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C R Quilter, N Nathwani, G S Conway, R Stanhope, D Ralph, G Bahadur, P Serhal, K Taylor, and J D A Delhanty A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex J. Med. Genet., December 1, 2002; 39(12): e80 - 80. [Full Text] [PDF]
|
|
|
|
 |
|
 M. Hurles, J. Bailey, and E. Eichler Are 100,000 "SNPs" Useless? Science, November 22, 2002; 298(5598): 1509a - 1509. [Full Text] [PDF]
|
|
|
|
 |
|
 M. E. Hurles, J. Nicholson, E. Bosch, C. Renfrew, B. C. Sykes, and M. A. Jobling Y Chromosomal Evidence for the Origins of Oceanic-Speaking Peoples Genetics, January 1, 2002; 160(1): 289 - 303. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Kamp, K. Huellen, S. Fernandes, M. Sousa, P.N. Schlegel, A. Mielnik, S. Kleiman, H. Yavetz, W. Krause, W. Kupker, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome Mol. Hum. Reprod., October 1, 2001; 7(10): 987 - 994. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. Blagosklonova and J-L Bresson The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis Mol. Hum. Reprod., July 1, 2001; 7(7): 692 - 693. [Full Text] [PDF]
|
|
|
|
 |
|
 T. Zerjal, L. Beckman, G. Beckman, A.-V. Mikelsaar, A. Krumina, V. Kucinskas, M. E. Hurles, and C. Tyler-Smith Geographical, Linguistic, and Cultural Influences on Genetic Diversity: Y-Chromosomal Distribution in Northern European Populations Mol. Biol. Evol., June 1, 2001; 18(6): 1077 - 1087. [Abstract] [Full Text]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
