Ribagorda Marta, Berríos Soledad, Solano Emanuela, Ayarza Eliana, Martín-Ruiz Marta, Gil-Fernández Ana, Parra María Teresa, Viera Alberto, Rufas Julio S, Capanna Ernesto, Castiglia Riccardo, Fernández-Donoso Raúl, Page Jesús
Departamento de Biología, Facultad de Ciencias, Universidad Autónoma de Madrid, Madrid, Spain.
Programa de Genética Humana, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Chromosoma. 2019 Jun;128(2):149-163. doi: 10.1007/s00412-019-00695-8. Epub 2019 Mar 2.
Natural populations of the house mouse Mus musculus domesticus show great diversity in chromosomal number due to the presence of chromosomal rearrangements, mainly Robertsonian translocations. Breeding between two populations with different chromosomal configurations generates subfertile or sterile hybrid individuals due to impaired meiotic development. In this study, we have analyzed prophase-I spermatocytes of hybrids formed by crossing mice from Vulcano and Lipari island populations. Both populations have a 2n = 26 karyotype but different combinations of Robertsonian translocations. We studied the progress of synapsis, recombination, and meiotic silencing of unsynapsed chromosomes during prophase-I through the immunolocalization of the proteins SYCP3, SYCP1, γH2AX, RAD51, and MLH1. In these hybrids, a hexavalent is formed that, depending on the degree of synapsis between chromosomes, can adopt an open chain, a ring, or a closed configuration. The frequency of these configurations varies throughout meiosis, with the maximum degree of synapsis occurring at mid pachytene. In addition, we observed the appearance of heterologous synapsis between telocentric and metacentric chromosomes; however, this synapsis seems to be transient and unstable and unsynapsed regions are frequently observed in mid-late pachytene. Interestingly, we found that chiasmata are frequently located at the boundaries of unsynapsed chromosomal regions in the hexavalent during late pachytene. These results provide new clues about synapsis dynamics during meiosis. We propose that mechanical forces generated along chromosomes may induce premature desynapsis, which, in turn, might be counteracted by the location of chiasmata. Despite these and additional meiotic features, such as the accumulation of γH2AX on unsynapsed chromosome regions, we observed a large number of cells that progressed to late stages of prophase-I, indicating that synapsis defects may not trigger a meiotic crisis in these hybrids.
由于染色体重排(主要是罗伯逊易位)的存在,家鼠(小家鼠)的自然种群在染色体数目上表现出极大的多样性。两个具有不同染色体构型的种群之间进行杂交,会产生生育力低下或不育的杂交个体,这是由于减数分裂发育受损所致。在本研究中,我们分析了由来自火山岛和利帕里岛种群的小鼠杂交形成的杂种的减数分裂前期I精母细胞。这两个种群都具有2n = 26的核型,但罗伯逊易位的组合不同。我们通过蛋白质SYCP3、SYCP1、γH2AX、RAD51和MLH1的免疫定位,研究了减数分裂前期I期间联会、重组以及未联会染色体的减数沉默的进展情况。在这些杂种中,会形成一个六价体,根据染色体之间的联会程度,它可以呈现开链、环状或闭合构型。这些构型的频率在整个减数分裂过程中会发生变化,联会的最大程度出现在粗线期中期。此外,我们观察到端着丝粒染色体和中着丝粒染色体之间出现了异源联会;然而,这种联会似乎是短暂且不稳定的,在粗线期中后期经常会观察到未联会区域。有趣的是,我们发现交叉点在粗线期后期经常位于六价体中未联会染色体区域的边界处。这些结果为减数分裂期间的联会动态提供了新线索。我们提出,沿着染色体产生的机械力可能会诱导过早解联会,而交叉点的位置可能会反过来抵消这种影响。尽管存在这些以及其他减数分裂特征,例如γH2AX在未联会染色体区域的积累,但我们观察到大量细胞进入了减数分裂前期I的后期阶段,这表明联会缺陷可能不会在这些杂种中引发减数分裂危机。