Publications by authors named "James R Xue"

Article Synopsis
  • The study investigates the genetic and brain features linked to vocal learning in mammals by comparing data from the Egyptian fruit bat and 215 other placental mammals.* -
  • Researchers found that certain proteins evolve more slowly in vocal learners and identified a specific brain region responsible for vocal motor control in the Egyptian fruit bat.* -
  • Using machine learning, they uncovered 50 regulatory elements that are associated with vocal learning, suggesting that losses in these elements played a role in the evolution of vocal learning in mammals.*
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Article Synopsis
  • Zoonomia is the largest resource for studying mammalian genomes, analyzing 240 species to find genetic mutations that could impact fitness and disease risk.
  • Around 332 million bases in the human genome are highly conserved across species, indicating evolutionary significance, with 4552 of these being ultraconserved.
  • The research highlights that most constrained bases are outside protein-coding regions and not annotated, revealing potential insights for understanding unique traits in mammals and informing medical research.
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Conserved genomic sequences disrupted in humans may underlie uniquely human phenotypic traits. We identified and characterized 10,032 human-specific conserved deletions (hCONDELs). These short (average 2.

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Although thousands of genomic regions have been associated with heritable human diseases, attempts to elucidate biological mechanisms are impeded by a general inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function that is agnostic to cell type or disease mechanism. Here, single base phyloP scores from the whole genome alignment of 240 placental mammals identified 3.

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Although some variation introgressed from Neanderthals has undergone selective sweeps, little is known about its functional significance. We used a Massively Parallel Reporter Assay (MPRA) to assay 5,353 high-frequency introgressed variants for their ability to modulate the gene expression within 170 bp of endogenous sequence. We identified 2,548 variants in active putative cis-regulatory elements (CREs) and 292 expression-modulating variants (emVars).

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3' untranslated region (3'UTR) variants are strongly associated with human traits and diseases, yet few have been causally identified. We developed the massively parallel reporter assay for 3'UTRs (MPRAu) to sensitively assay 12,173 3'UTR variants. We applied MPRAu to six human cell lines, focusing on genetic variants associated with genome-wide association studies (GWAS) and human evolutionary adaptation.

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