{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C1orf185 is a relatively uncharacterized open reading frame on chromosome 1 whose function is beginning to emerge from large‐scale genetic studies across diverse conditions. Although its precise molecular role remains to be fully elucidated, converging evidence from genome‐wide association analyses and targeted sequencing projects indicates that variants in or near C1orf185 may contribute to the regulation of cellular excitability and conduction processes. For instance, in a study examining determinants of the QRS interval on the electrocardiogram, novel loci—including genes with no previously established functions—were implicated in ventricular depolarization and conduction, suggesting that C1orf185 could be part of a network interfacing with ion channel regulation and cardiac electrical physiology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In a separate investigation into the genetic landscape of multiple myeloma, genomic deletions on chromosome 1 were shown to affect clinical outcomes and cell proliferation, implying that genes within these regions, potentially including C1orf185, might impact cell cycle control and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, studies in atrial fibrillation have underscored the importance of diverse genomic loci in arrhythmia susceptibility, thereby extending the potential relevance of C1orf185 to cardiac rhythm disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Similarly, whole genome sequencing efforts in essential tremor families have revealed candidate genes that link ion channel function and neuronal rhythmicity to movement disorders, a concept that may also be relevant for C1orf185 if it modulates similar signal transduction pathways in excitable tissues."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Finally, investigations into idiopathic non‐obstructive azoospermia have identified testis‐specific genetic lesions as contributors to severe hypospermatogenesis, hinting at broader roles for genes expressed in highly specialized tissues such as C1orf185 in reproductive biology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while C1orf185’s direct biological function remains to be defined, the collective findings from studies of cardiac conduction, oncogenesis, arrhythmias, movement disorders, and infertility suggest that it may be involved in key regulatory pathways governing ion transport, cell cycle progression, and tissue‐specific signaling. Further functional characterization of C1orf185 will be essential to clarify its potential pleiotropic roles in health and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nona Sotoodehnia, Aaron Isaacs, Paul I W de Bakker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.716"}], "href": "https://doi.org/10.1038/ng.716"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21076409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21076409"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Paola E Leone, Brian A Walker, Matthew W Jenner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletions of CDKN2C in multiple myeloma: biological and clinical implications."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Cancer Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/1078-0432.CCR-08-0347"}], "href": "https://doi.org/10.1158/1078-0432.CCR-08-0347"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18829482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18829482"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Carolina Roselli, Mark D Chaffin, Lu-Chen Weng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multi-ethnic genome-wide association study for atrial fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41588-018-0133-9"}], "href": "https://doi.org/10.1038/s41588-018-0133-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29892015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29892015"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zagaa Odgerel, Shilpa Sonti, Nora Hernandez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole genome sequencing and rare variant analysis in essential tremor families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0220512"}], "href": "https://doi.org/10.1371/journal.pone.0220512"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31404076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31404076"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Caroline Cazin, Yasmine Neirijnck, Corinne Loeuillet, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "C1orf185"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "CCT6B"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells11010118"}], "href": "https://doi.org/10.3390/cells11010118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35011680"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35011680"}]}]}]}