Veyrunes Frédéric, Watson Johan, Robinson Terence J, Britton-Davidian Janice
Institut des Sciences de l'Evolution (UMR5554), Génétique & Environnement, Université Montpellier II, Montpellier, France.
Chromosome Res. 2007;15(2):223-30. doi: 10.1007/s10577-006-1116-8. Epub 2007 Feb 5.
Although sex chromosomes are generally the most conserved elements of the mammalian karyotype, those of African pygmy mice show three extraordinary deviations from the norm: (a) asynaptic sex chromosomes, (b) multiple sex-autosome fusions, and (c) modifications of sex determination in some populations/species. In this study we identified, in two sex-reversed females of Mus (Nannomys) minutoides, a fourth rare sex chromosome change: a spontaneous whole-arm reciprocal translocation (WART) between an autosomal Robertsonian pair Rb(13.16) and the sex-autosome fusion Rb(X.1). This represents one of the very few reported cases of WARTs in natura within mammals, and is the first one to involve sex chromosomes. Hence, this finding offers new insights into the mechanisms of chromosomal differentiation in African pygmy mice, as WARTs may have contributed to the extensive diversity not only of autosomal Robertsonian fusions, but also of sex-autosome translocations. More widely, these results provide additional support to previous studies on the house mouse and the common shrew which indirectly inferred the role of WARTs in their karyotypic evolution, and may even help to understand how the fascinating 10 sex chromosome chain of the platypus might have evolved. This accumulation of rare sex chromosome changes in single specimens is, to our knowledge, exceptional among mammals.
虽然性染色体通常是哺乳动物核型中最保守的元素,但非洲侏儒小鼠的性染色体却显示出与常规情况的三个显著偏差:(a) 性染色体不联会,(b) 多个性染色体与常染色体融合,以及 (c) 某些种群/物种中性别决定的改变。在本研究中,我们在两只性反转的小家鼠(侏儒小鼠属)雌性个体中发现了第四个罕见的性染色体变化:在一对常染色体罗伯逊氏对 Rb(13.16) 和性染色体与常染色体融合 Rb(X.1) 之间发生了自发的全臂相互易位(WART)。这是哺乳动物自然状态下报道极少的全臂相互易位案例之一,也是首例涉及性染色体的此类案例。因此,这一发现为非洲侏儒小鼠染色体分化机制提供了新见解,因为全臂相互易位可能不仅导致了常染色体罗伯逊氏融合的广泛多样性,还导致了性染色体与常染色体易位的广泛多样性。更广泛地说,这些结果为先前关于家鼠和普通鼩鼱的研究提供了额外支持,这些研究间接推断了全臂相互易位在它们核型进化中的作用,甚至可能有助于理解鸭嘴兽迷人的十条性染色体链是如何进化的。据我们所知,单个标本中这种罕见性染色体变化的积累在哺乳动物中是例外情况。