Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a microtubule-based network. This last step segregates homologs between two haploid precursor cells that may subsequently enter the second phase of meiosis, meiosis II.
The exchange of equivalent segments between homologous chromosomes occurs early on during meiosis I, and is referred to as crossing over. This process relies on the close association of such homologs, which are drawn together by the formation of a connective protein framework called the synaptonemal complex between them. To function correctly, the complex requires three parts: (1) vertical lateral elements, which form along the inward-facing sides of two juxtaposed homologous chromosomes; (2) a vertical central element positioned between the chromosomes; and (3) transverse filaments, or horizontal protein threads that connect the vertical and central components. The result has often been compared to a ladder, with the lateral elements serving as the legs and the transverse filaments akin to rungs. Importantly, the synaptonemal complex helps to precisely align homologous chromosomes, enabling crossing over between equivalent stretches of genetic material; however, this framework is transient, with most of it dissolving after such recombination occurs.
Meiosis is a complicated process, and errors can happen despite cellular safeguards. Occasionally, such mistakes are the result of nondisjunction, where chromosomes are not evenly partitioned between cells. During meiosis I, this means that a pair of homologous chromosomes may end up in one of the two resulting cells, while the other lacks the chromosome altogether. When the precursor that received both homologs enters and completes meiosis II, both daughter cells formed possess two copies of the chromosome in question, rather than the single copy expected.
One of the more well-known results of nondisjunction occurring during meiosis I is trisomy 21, in which an individual has three copies of chromosome 21. Commonly known as Down syndrome, this condition is characterized by distinct facial features, developmental delays, and heart defects. Although the exact cause of nondisjunction resulting in Down syndrome and other trisomies is variable, it may be the result of problems with the microtubule apparatus that separates the chromosomes, or defects in proteins that join chromosomes together.
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