Institute of Medical Sciences (IMS), University of Aberdeen, Aberdeen, UK.
Heredity (Edinb). 2022 Jul;129(1):56-63. doi: 10.1038/s41437-022-00523-3. Epub 2022 Apr 7.
Meiosis is undoubtedly the mechanism that underpins Mendelian genetics. Meiosis is a specialised, reductional cell division which generates haploid gametes (reproductive cells) carrying a single chromosome complement from diploid progenitor cells harbouring two chromosome sets. Through this process, the hereditary material is shuffled and distributed into haploid gametes such that upon fertilisation, when two haploid gametes fuse, diploidy is restored in the zygote. During meiosis the transient physical connection of two homologous chromosomes (one originally inherited from each parent) each consisting of two sister chromatids and their subsequent segregation into four meiotic products (gametes), is what enables genetic marker assortment forming the core of Mendelian laws. The initiating events of meiotic recombination are DNA double-strand breaks (DSBs) which need to be repaired in a certain way to enable the homologous chromosomes to find each other. This is achieved by DSB ends searching for homologous repair templates and invading them. Ultimately, the repair of meiotic DSBs by homologous recombination physically connects homologous chromosomes through crossovers. These physical connections provided by crossovers enable faithful chromosome segregation. That being said, the DSB repair mechanism integral to meiotic recombination also produces genetic transmission distortions which manifest as postmeiotic segregation events and gene conversions. These processes are non-reciprocal genetic exchanges and thus non-Mendelian.
减数分裂无疑是孟德尔遗传学的基础机制。减数分裂是一种特殊的、减少的细胞分裂,它从具有两套染色体的二倍体祖细胞产生携带单一染色体组的单倍体配子(生殖细胞)。通过这个过程,遗传物质被打乱并分配到单倍体配子中,使得当两个单倍体配子融合时,合子恢复二倍体。在减数分裂过程中,两个同源染色体(一个最初来自每个亲本)暂时物理连接,每个同源染色体由两条姐妹染色单体组成,随后它们分离成四个减数分裂产物(配子),这使得遗传标记的组合形成了孟德尔定律的核心。减数分裂重组的起始事件是 DNA 双链断裂(DSB),需要以某种方式修复,以使同源染色体能够找到彼此。这是通过 DSB 末端寻找同源修复模板并侵入它们来实现的。最终,同源重组通过同源重组修复减数分裂 DSB,通过交叉物理连接同源染色体。这些交叉提供的物理连接使染色体能够准确分离。也就是说,减数分裂重组所必需的 DSB 修复机制也会产生遗传传递扭曲,表现为减数分裂后分离事件和基因转换。这些过程是不可逆的遗传交换,因此是非孟德尔的。