{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMAST2 plays a pivotal role in the evolution of novel retrotransposon elements through exon fusion events. Alternative splicing can fuse the first exon of MAST2, which contains a CpG island, into intronic SVA sequences, thereby generating hybrid elements with enhanced transcriptional potential and retrotransposition capacity. These processes have led to the formation of new human‐specific subfamilies of SVA elements, where the MAST2‐derived sequences contribute positive regulatory functions in germ cells. This mechanism was elucidated in studies demonstrating the generation of fusion retrotransposons and the presence of functional splice sites within SVAs."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn oncogenesis, MAST2 is an important molecular player whose gene fusions and deregulated expression contribute to cancer progression. In breast cancer, gene rearrangements involving MAST2 are recurrent and have been shown to drive a proliferative phenotype in breast epithelial cells, detectable even at the ductal carcinoma in situ stage. Additionally, MAST2 overexpression in liver cancer is associated with advanced disease features and a poor prognosis, underscoring its potential as both a diagnostic marker and an oncogenic driver when rearranged or amplified."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in tumorigenesis, MAST2 functions as a modulator of multiple cellular processes. It positively regulates the expression and processing of the cystic fibrosis transmembrane conductance regulator (CFTR), enhancing channel function through PDZ-dependent interactions. Furthermore, the PDZ domain of MAST2 facilitates interactions with PTEN, with implications for neuronal survival—especially during rabies virus infection, where competitive binding alters neuroprotective signaling. Finally, rare structural variants and duplications of MAST2 have been linked to disorders of hemostasis and fertility. An Arg-to-Gln missense mutation in MAST2, for instance, is associated with venous thromboembolism by perturbing the balance between tissue factor pathway inhibitor and plasminogen activator inhibitor-1, while copy number variations involving MAST2 have also been implicated in cases of infertility."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dustin C Hancks, Adam D Ewing, Jesse E Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exon-trapping mediated by the human retrotransposon SVA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gr.093153.109"}], "href": "https://doi.org/10.1101/gr.093153.109"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19635844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19635844"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "O B Bantysh, A A Buzdin "}, {"type": "b", "children": [{"type": "t", "text": "Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (Mosc) (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1134/s0006297909120153"}], "href": "https://doi.org/10.1134/s0006297909120153"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19961423"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19961423"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anastasia A Zabolotneva, Olga Bantysh, Maria V Suntsova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional regulation of human-specific SVAF₁ retrotransposons by cis-regulatory MAST2 sequences."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2012.05.016"}], "href": "https://doi.org/10.1016/j.gene.2012.05.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22609064"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22609064"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Dan R Robinson, Shanker Kalyana-Sundaram, Yi-Mi Wu, et al. 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