rec114

Rec114 is a meiosis-specific protein encoded by the REC114 gene. It plays a key role in initiating meiotic recombination by promoting the formation of programmed double-strand breaks (DSBs) by Spo11. The protein is evolutionarily conserved across eukaryotes and typically functions within a DSB-forming complex that includes other factors such as MEI4, Mer2, and, in mammals, IHO1. In many species, Rec114 expression is restricted to meiotic prophase.

In budding yeast, Rec114 forms part of a DSB machinery together with Mer2 and Spo11, promoting breaks at chromosome axes. It localizes to chromatin regions and is required for efficient DSB formation; Mer2 is needed to recruit Rec114 to chromatin. Genetic analyses show that loss of Rec114 reduces DSB frequency and crossovers, impairing meiosis.

In vertebrates, REC114 interacts with MEI4 to form a functional complex that stimulates Spo11-dependent DSB formation. The complex is recruited to meiotic chromatin with the help of IHO1; REC114 and MEI4 colocalize with DSB markers during leptotene and zygotene and set the stage for homologous recombination.

Phenotypes: In model organisms, REC114/Rec114 deficiency leads to reduced DSBs, defective synapsis, and meiotic arrest with reduced fertility. Mouse knockouts arrest during meiotic prophase I due to failure to form DSBs and crossovers; similar defects are observed in yeast rec114 mutants.

Relevance: Understanding REC114 contributes to knowledge of meiotic recombination initiation and genome stability. There are currently no widespread human disease-associated REC114 mutations reported, but the gene remains a focus of fertility and recombination research.