Resurrecting the alternative splicing landscape of archaic hominins using machine learning

CM Brand, LL Colbran, JA Capra - Nature Ecology & Evolution, 2023 - nature.com
Alternative splicing contributes to adaptation and divergence in many species. However, it
has not been possible to directly compare splicing between modern and archaic hominins …

Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans

S Rong, CR Neil, A Welch, C Duan… - Proceedings of the …, 2023 - National Acad Sciences
Humans coexisted and interbred with other hominins which later became extinct. These
archaic hominins are known to us only through fossil records and for two cases, genome …

Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins

YHE Hsiao, JH Bahn, X Lin, TM Chan, R Wang… - Genome …, 2016 - genome.cshlp.org
Identification of functional genetic variants and elucidation of their regulatory mechanisms
represent significant challenges of the post-genomic era. A poorly understood topic is the …

Sex-specific and lineage-specific alternative splicing in primates

R Blekhman, JC Marioni, P Zumbo… - Genome …, 2010 - genome.cshlp.org
Comparative studies of gene regulation suggest an important role for natural selection in
shaping gene expression patterns within and between species. Most of these studies …

Predicting archaic hominin phenotypes from genomic data

CM Brand, LL Colbran, JA Capra - Annual review of genomics …, 2022 - annualreviews.org
Ancient DNA provides a powerful window into the biology of extant and extinct species,
including humans' closest relatives: Denisovans and Neanderthals. Here, we review what is …

The origins, evolution, and functional potential of alternative splicing in vertebrates

JM Mudge, A Frankish… - Molecular biology …, 2011 - academic.oup.com
Alternative splicing (AS) has the potential to greatly expand the functional repertoire of
mammalian transcriptomes. However, few variant transcripts have been characterized …

The evolutionary landscape of alternative splicing in vertebrate species

NL Barbosa-Morais, M Irimia, Q Pan, HY Xiong… - Science, 2012 - science.org
How species with similar repertoires of protein-coding genes differ so markedly at the
phenotypic level is poorly understood. By comparing organ transcriptomes from vertebrate …

Genomic fossils as a snapshot of the human transcriptome

R Shemesh, A Novik, S Edelheit… - Proceedings of the …, 2006 - National Acad Sciences
Processed pseudogenes (PPGs) are cDNA sequences that were generated through reverse
transcription of mature, spliced mRNAs and have subsequently been reinserted at a new …

Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence

E McArthur, DC Rinker, EN Gilbertson, G Fudenberg… - Biorxiv, 2022 - biorxiv.org
Abstract Changes in gene regulation were a major driver of the divergence of archaic
hominins (AHs)—Neanderthals and Denisovans—and modern humans (MHs). The three …