Gtf2a1l-KO Mouse

Gtf2a1l, while specific details about its exact function are not comprehensively detailed in the provided abstracts, seems to be associated with important biological processes. It has been linked to male infertility-related pathways, potentially through its influence on spermatogenesis. Additionally, its association with certain genetic loci in genome-wide association studies implies its role in complex genetic mechanisms [1,2,3].

In male infertility research, in patients with hypospermatogenesis, the GTF2A1L TDMR methylation was significantly lower in testes DNA from control samples compared to hypospermatogenic samples. High TDMR methylation was correlated with low GTF2A1L gene expression levels, yet aberrant GTF2A1L gene expression was not correlated with fertilisation rates [1]. Also, in the Chinese population, the rs11677854 genotype of GTF2A1L was correlated with the FSH level in non-obstructive azoospermia (NOA) patients, suggesting it could be a valuable molecular predictive marker for assessing the treatment of NOA patients [3].

In conclusion, Gtf2a1l appears to be involved in spermatogenesis-related biological functions, especially in the context of male infertility. Studies related to its methylation and gene expression in male infertility patients, like those with hypospermatogenesis and NOA, have provided insights into its potential role in these disease conditions, highlighting its importance as a potential biomarker or a gene with implications for understanding the genetic basis of male infertility [1,3].

References:

1. Sugimoto, Kazuhiro, Koh, Eitetsu, Iijima, Masashi, Maeda, Yuji, Namiki, Mikio. 2013. Aberrant methylation of the TDMR of the GTF2A1L promoter does not affect fertilisation rates via TESE in patients with hypospermatogenesis. In Asian journal of andrology, 15, 634-9. doi:10.1038/aja.2013.56. https://pubmed.ncbi.nlm.nih.gov/23770943/

2. Kawashima-Kumagai, Kyoko, Yamashiro, Kenji, Yoshikawa, Munemitsu, Wong, Tien Yin, Yoshimura, Nagahisa. 2017. A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration. In Scientific reports, 7, 7173. doi:10.1038/s41598-017-07526-9. https://pubmed.ncbi.nlm.nih.gov/28775256/

3. Zhang, Yan, He, Xiao-Jin, Song, Bing, Cao, Yun-Xia, Du, Wei-Dong. 2014. Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population. In Journal of assisted reproduction and genetics, 32, 95-101. doi:10.1007/s10815-014-0369-y. https://pubmed.ncbi.nlm.nih.gov/25374392/