{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CATSPERE encodes CatSper‐ε, an auxiliary subunit of the CatSper channel, which is the principal calcium channel in mammalian spermatozoa. Disruption of CATSPERE, as evidenced by the identification of a homozygous in‐frame 6‐bp deletion in exon 18 in an infertile patient, was associated with a specific loss of CatSper function and failure of fertilization during in vitro fertilization procedures."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, a genome‐wide association study in colorectal cancer revealed that a genetic variant located upstream of CATSPERE modulates its transcription by reducing the binding affinity of the POU2F1 transcription factor; functionally, upregulation of CATSPERE promoted calcium ion influx and activated apoptotic pathways, thereby attenuating tumor growth in colorectal cancer models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Collectively, these findings suggest that CATSPERE plays dual roles in both normal sperm function—by being essential for the formation and activity of the CatSper channel—and in colorectal tumorigenesis, where its regulated expression influences cell survival and tumor progression.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sean G Brown, Melissa R Miller, Polina V Lishko, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous in-frame deletion in CATSPERE in a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Reprod (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/humrep/dey278"}], "href": "https://doi.org/10.1093/humrep/dey278"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30239785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30239785"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yixuan Meng, Mulong Du, Dongying Gu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-Wide Association Analyses Identify CATSPERE as a Mediator of Colorectal Cancer Susceptibility and Progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-21-2948"}], "href": "https://doi.org/10.1158/0008-5472.CAN-21-2948"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35074755"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35074755"}]}]}]}