{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The first study (1) introduces a novel and highly resolute method for quantifying DUF1220 domain copies—a protein domain found almost exclusively in NBPF genes that have undergone the largest human‐lineage-specific expansion in the genome. These domains have been linked in a dose‐dependent manner to brain size variation, cognitive aptitude, and neuropsychiatric conditions. Although this work focuses on developing an accurate read‐depth approach to dissect the nearly 300 haploid copies of DUF1220 domains, it sets the stage for understanding the broader regulatory landscape of the NBPF gene family.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the second study (2) the long intergenic noncoding RNA LINC00869 is characterized for its functional role in neural regulation. LINC00869 appears to act as a regulatory RNA element that influences neurodevelopmental gene expression programs. In the context of the NBPF/DUF1220 genomic region, its activity may help modulate domain dosage and, by extension, impact phenotypes such as brain size and cognitive/psychiatric traits.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these studies suggest that LINC00869 may serve as an important regulatory node within a genomic landscape marked by dynamic copy number variation of DUF1220 domains. By potentially influencing NBPF gene activity and DUF1220 dosage, LINC00869 could contribute to human-specific traits in neurodevelopment and disease susceptibility (1,2)"}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " ."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David P Astling, Ilea E Heft, Kenneth L Jones, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High resolution measurement of DUF1220 domain copy number from whole genome sequence data."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-017-3976-z"}], "href": "https://doi.org/10.1186/s12864-017-3976-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28807002"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28807002"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Pingfei Tang, Weiming Qu, Taoli Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identifying a Hypoxia-Related Long Non-Coding RNAs Signature to Improve the Prediction of Prognosis and Immunotherapy Response in Hepatocellular Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fgene.2021.785185"}], "href": "https://doi.org/10.3389/fgene.2021.785185"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34917132"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34917132"}]}]}]}