Ayarza Eliana, González Marisel, Page Jesús, Berríos Soledad
Universidad de Chile, Instituto de Ciencias Biomédicas, Facultad de Medicina, Programa de Genética Humana, Santiago, Chile.
Universidad de Chile, Facultad de Medicina, Departamento Tecnología Médica, Santiago, Chile.
Genet Mol Biol. 2025 Aug 1;48(3):e20240219. doi: 10.1590/1678-4685-GMB-2024-0219. eCollection 2025.
Crossovers (COs) generate genetic diversity and proper homologous chromosome segregation during meiosis. Mus musculus domesticus, with a diploid number of 2n=40, has 19 autosomal pairs plus one sex chromosome pair all of which are telocentric chromosomes. Frequently exhibits Robertsonian fusions (Rb), which create natural populations with reduced chromosome numbers according to the Rb chromosomes. We examined the number and distribution of COs in spermatocytes from standard homozygous 2n=40 individuals, compared to homozygous Rb 2n=24 and heterozygous Rb 2n=32 individuals carrying 8 trivalents. Spermatocyte nuclear spreads from homozygous and heterozygous were prepared, and immunocytochemistry was used to detect the MLH1 protein for crossover (CO) and the SYCP3 protein for synaptonemal complexes in bivalents or trivalents. We observed an average of 26 ± 2.1 COs in 2n=40, 20.1 ± 1.6 COs in 2n=24, and an intermediate value of 22.4 ± 2.0 COs in 2n=32 spermatocytes. The lower frequency of COs in 2n=24 and 2n=32 spermatocytes compared to 2n=40 may be due to interference from the pericentromeric heterochromatin present in the Rb bivalent or trivalent chromosomes. Additionally, we suggest that the spatial positioning and interactions of these derivative chromosomes in the nucleus could help explain the differences in COs between 2n=24, 2n=32, and 2n=40 spermatocytes.
交叉互换(COs)在减数分裂过程中产生遗传多样性并确保同源染色体的正确分离。小家鼠的二倍体数目为2n = 40,有19对常染色体和1对性染色体,所有这些染色体都是端着丝粒染色体。小家鼠经常出现罗伯逊融合(Rb),根据Rb染色体形成染色体数目减少的自然种群。我们研究了标准纯合2n = 40个体的精母细胞中COs的数量和分布,并与携带8个三价体的纯合Rb 2n = 24个体和杂合Rb 2n = 32个体进行了比较。制备了纯合子和杂合子的精母细胞核铺片,并使用免疫细胞化学方法检测二价体或三价体中用于交叉互换(CO)的MLH1蛋白和用于联会复合体的SYCP3蛋白。我们观察到2n = 40的精母细胞中平均有26 ± 2.1个COs,2n = 24的精母细胞中有20.1 ± 1.6个COs,2n = 32的精母细胞中有中间值22.4 ± 2.0个COs。与2n = 40相比,2n = 24和2n = 32的精母细胞中COs频率较低可能是由于Rb二价体或三价体染色体中存在的着丝粒周围异染色质的干扰。此外,我们认为这些衍生染色体在细胞核中的空间定位和相互作用有助于解释2n = 24、2n = 32和2n = 40精母细胞之间COs的差异。