Genetic variation in the BLM gene and its expression in the ovaries is closely related to kidding number in goats

The Guizhou white goat is the earliest local goat breed listed in China's National Animal Breeds Resource List and an excellent local goat breed in Guizhou Province. It has good stress resistance, but its average number of kids per birth cycle is low compared with other local goat breeds [1]. Litter size is an important index used to evaluate the reproductive performance of goats, and it is highly valued by breeding researchers. It is also an important index used to explore goat reproduction traits [2]. Numerous studies have shown that in sheep, which belong to the same subfamily as goats, several important genes that impact lambing traits have been identified and characterized [3,4]. However, the major genes that impact kidding traits in goats have not been defined. Therefore, researching the genes related to goat kidding can be utilized for breeding and the production of high-yielding goat populations. Bloom (BLM) helicase, an important member of the RecQ DNA helicase family [5], plays a crucial role in gene recombination, transcription, DNA replication, DNA repair, and the maintenance of genomic integrity [[6], [7], [8]]. During the formation of mammalian ovarian reserve, BLM helicase catalyzes DNA double-strand break (DSB) repair and recovery of stalled replication forks through homologous recombination repair pathway in combination with other proteins (BRCA1, BRCA2, RPA, RAD51, etc.) [8]. In humans, BLM helicase deficiency leads to Bloom syndrome, with chromosomal instability, often accompanied by primary ovarian insufficiency (POI), and susceptibility to abortion and even infertility [9,10]. A study showed that targeted mutations in the BLM gene of homozygous embryos caused stunting and death on day 13.5 of the embryonic stage, and the sister chromatid exchange (SCE) rate of BLM−/− fibroblasts in cultured mice was higher, indicating that the expression of BLM helicase during embryonic development is necessary for embryo survival [11]. In the fruit fly, Drosophila melanogaster, mutation in BLM helicase results in defects in DNA repair and inhibits the development of eggs and early embryos, leading to female sterility and increased sensitivity to ionizing radiation [12,13]. A lack of BLM helicase in D. melanogaster can also lead to serious DNA damage, significant nuclear damage, and embryo mortality [14]. Therefore, BLM helicase plays an important role in regulating reproduction across many taxa. However, how the BLM gene impacts goat kidding performance has not been studied. Understanding this relationship can aid in unraveling the regulatory mechanism of the BLM gene in goat kidding performance.

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