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Hum. Reprod. Advance Access originally published online on October 17, 2006
Human Reproduction 2007 22(2):468-476; doi:10.1093/humrep/del397
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Impact of trisomy on fertility and meiosis in male mice

M. Davisson1, E. Akeson, C. Schmidt, B. Harris, J. Farley and M.A. Handel

The Jackson Laboratory, Bar Harbor, ME, USA

1 To whom correspondence should be addressed at: The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. E-mail: muriel.davisson{at}jax.org

BACKGROUND: Chromosomal abnormalities frequently are associated with impairment or arrest of spermatogenesis in mammals but are compatible with fertility in female carriers of the same anomaly. In the case of trisomy, mice have extra genomic DNA as well as the chromosomal abnormality, usually present as an extra, unpaired chromosome. Thus, impairment of spermatogenesis in trisomic males could be due to the presence of extra genomic material (i.e. triplicated genes) or due to the chromosomal abnormality and presence of an unpaired chromosome in meiosis. METHODS: In this study, fertility and chromosomal pairing configurations during meiotic prophase were analysed in male mice trisomic for different segments of the genome. Four have an extra segmental or tertiary trisomic chromosome—Ts(1716)65Dn, Ts(1016)232Dn, Ts(1217)4Rk and Ts(417)2Lws—and one has the triplicated segment attached to another chromosome—Ts(16C-tel)1Cje. Ts(1716)65Dn and Ts(16C-tel)1Cje have similar gene content triplication and differ primarily in whether the extra DNA is in an extra chromosome or not. RESULTS: The presence of an intact extra chromosome, rather than trisomy per se, is associated with male sterility. Additionally, sterility is correlated with a high frequency of association of the unpaired chromosome with the XY body, which contains the largely unpaired X and Y chromosomes. CONCLUSIONS: Intact extra chromosomes disrupt spermatogenesis, and unpaired chromosomes establish a unique chromatin territory within meiotic nuclei.

Key words: trisomy/male fertility/synaptonemal complex/meiotic pairing/spermatogenesis


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