Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.
Novosibirsk State University, Novosibirsk, Russian Federation.
Cytogenet Genome Res. 2021;161(1-2):14-22. doi: 10.1159/000513266. Epub 2021 Mar 16.
Amplified sequences constitute a large part of mammalian genomes. A chromosome 1 containing 2 large (up to 50 Mb) homogeneously staining regions (HSRs) separated by a small inverted euchromatic region is present in many natural populations of the house mouse (Mus musculus musculus). The HSRs are composed of a long-range repeat cluster, Sp100-rs, with a repeat length of 100 kb. In order to understand the organization and function of HSRs in meiotic chromosomes, we examined synapsis and recombination in male mice hetero- and homozygous for the HSR-carrying chromosome using FISH with an HSR-specific DNA probe and immunolocalization of the key meiotic proteins. In all homozygous and heterozygous pachytene nuclei, we observed fully synapsed linear homomorphic bivalents 1 marked by the HSR FISH probe. The synaptic adjustment in the heterozygotes was bilateral: the HSR-carrying homolog was shortened and the wild-type homolog was elongated. The adjustment was reversible: desynapsis at diplotene was accompanied by elongation of the HSRs. Immunolocalization of H3K9me2/3 indicated that the HSRs in the meiotic chromosome retained the epigenetic modification typical for C-heterochromatin in somatic cells. MLH1 foci, marking mature recombination nodules, were detected in the proximal HSR band in heterozygotes and in both HSR bands of homozygotes. Unequal crossing over within the long-range repeat cluster can cause variation in size of the HSRs, which has been detected in the natural populations of the house mouse.
扩增序列构成了哺乳动物基因组的很大一部分。许多家鼠(Mus musculus musculus)的自然种群中都存在一条包含两个大型(长达 50Mb)均匀染色区(HSR)的 1 号染色体,这两个 HSR 由一个小的倒位 euchromatin 区域隔开。HSRs 由一个长距离重复簇 Sp100-rs 组成,其重复长度为 100kb。为了了解 HSR 在减数分裂染色体中的组织和功能,我们使用 HSR 特异性 DNA 探针的 FISH 和关键减数蛋白的免疫定位,检查了携带 HSR 染色体的雄性小鼠的异质和同质合子的联会和重组。在所有同质和异质粗线期核中,我们观察到由 HSR FISH 探针标记的完全联会的线性同源二价体 1。杂合子中的突触调整是双侧的:携带 HSR 的同源物缩短,而野生型同源物延长。这种调整是可逆的:在二价期的解联会伴随着 HSR 的延长。H3K9me2/3 的免疫定位表明,减数分裂染色体中的 HSR 保留了体细胞 C-异染色质的表观遗传修饰。在杂合子中,MLH1 焦点标记成熟的重组结节,在异质体的近端 HSR 带和同型合子的两个 HSR 带中都可以检测到。长距离重复簇内的不等交叉可能导致 HSR 大小的变化,这在家鼠的自然种群中已经检测到。