doi: 10.1098/rspb.2009.1925. Epub 2009 Dec 9.
A novel sex determination system in a close relative of the house mouse
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- PMID:20007182
- PMCID: PMC2842770
- DOI: 10.1098/rspb.2009.1925
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A novel sex determination system in a close relative of the house mouse
Frederic Veyrunes et al. Proc Biol Sci..
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Abstract
Therian mammals have an extremely conserved XX/XY sex determination system. A limited number of mammal species have, however, evolved to escape convention and present aberrant sex chromosome complements. In this study, we identified a new case of atypical sex determination in the African pygmy mouse Mus minutoides, a close evolutionary relative of the house mouse. The pygmy mouse is characterized by a very high proportion of XY females (74%, n = 27) from geographically widespread Southern and Eastern African populations. Sequencing of the high mobility group domain of the mammalian sex determining gene Sry, and karyological analyses using fluorescence in situ hybridization and G-banding data, suggest that the sex reversal is most probably not owing to a mutation of Sry, but rather to a chromosomal rearrangement on the X chromosome. In effect, two morphologically different X chromosomes were identified, one of which, designated X*, is invariably associated with sex-reversed females. The asterisk designates the still unknown mutation converting X*Y individuals into females. Although relatively still unexplored, such an atypical sex chromosome system offers a unique opportunity to unravel new genetic interactions involved in the initiation of sex determination in mammals.
Figures
Map of Southern Africa showing the geographical origin of the samples studied.
Fluorescencein situ hybridization using a house mouse Y chromosome painting probe on aMus minutoides XXd female from Caledon NR. The strong signal on the Xd arm (arrow) indicates that this female is in fact XY. Scale bar, 10 µm.
(a) G-banded karyotype of an X*Y female from Stellenbosch, the numbers in parentheses designate the chromosome pairs involved in the Robertsonian fusions. (b) The different sex chromosome complements (X, X* and Y chromosomes fused to autosome pair 1); black dots indicate centromere position.
Maximum likelihood phylogeny using the 472 bp sequences of theSry gene. The samples in bold are those sequenced in this study. Bootstrap values supporting each clade are indicated on nodes. WithinMus minutoides, specimens are characterized by their locality of capture. Blue and pink dots represent males and X*Y females, respectively. 2n = diploid number.
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