Tsga13, or testis-specific gene 13, has its expression patterns being of interest in biological research. It is relatively well-conserved among species. Its exact function and associated pathways are still being explored, but understanding its genetic variations could provide insights into certain biological processes [2].

A study on Hirschsprung disease (HSCR) identified a variant (rs13223150) of Tsga13 as a potential risk locus for total colonic aganglionosis (TCA) in HSCR. Analyses in a Korean population showed that the rs13223150_A allele and a haplotype including rs13223150 were significantly associated with TCA, suggesting that Tsga13 genetic variants may affect TCA in HSCR and the development of the enteric nervous system [1]. Another study found that Tsga13 is highly expressed not only in testis but also in multiple normal tissues like stomach, larynx, etc. Most carcinoma tissues had reduced Tsga13 expression compared to adjacent normal tissues, except glioblastoma and lung cancer, indicating an association with tumor malignancy [2]. The imprinting status of Tsga13 in a 1.5-Mb MEST-flanking region at human chromosome 7q32 was inconclusive due to its weak and/or tissue-specific expression [3].

In conclusion, Tsga13 shows diverse expression patterns in normal and malignant tissues. Its genetic variants are associated with the risk of total colonic aganglionosis in HSCR, suggesting its potential role in enteric nervous system development. The study of Tsga13 in these aspects helps to understand the genetic basis of related diseases and the relationship between gene expression and tumor malignancy. [1,2,3]

References:

1. Jung, Soo-Min, Namgoong, Suhg, Seo, Jeong-Meen, Kim, Hyun-Young, Kim, Jeong-Hyun. 2019. Potential association between TSGA13 variants and risk of total colonic aganglionosis in Hirschsprung disease. In Gene, 710, 240-245. doi:10.1016/j.gene.2019.06.007. https://pubmed.ncbi.nlm.nih.gov/31181311/

2. Zhao, Hu, Lai, Xiaofeng, Xu, Xinyuan, Li, Wei, Su, Jin. 2015. Histochemical analysis of testis specific gene 13 in human normal and malignant tissues. In Cell and tissue research, 362, 653-63. doi:10.1007/s00441-015-2227-3. https://pubmed.ncbi.nlm.nih.gov/26111495/

3. Yamada, Takahiro, Mitsuya, Kohzoh, Kayashima, Tomohiko, Niikawa, Norio, Kishino, Tatsuya. . Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. In Genomics, 83, 402-12. doi:. https://pubmed.ncbi.nlm.nih.gov/14962666/