Alu-Sc-mediated exonization generated a mitochondrial LKB1 gene variant found only in higher order primates

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 27, 2025

The tumor suppressor LKB1/STK11 plays important roles in regulating cellular metabolism and stress responses its mutations are associated with various cancers. We recently identified a novel exon 1b within intron 1 of human LKB1/STK11, which generates an alternatively spliced, mitochondria-targeting LKB1 isoform for mitochondrial oxidative stress. Here we examined the formation this uncovered relatively late emergence during evolution. Analyses putative genomic sequences primate superfamily indicated that exonization was mediated by conserved retrotransposable element Alu-Sc. While recognizable most members family from New World Monkeys onwards, characteristically functional 1b, translation start 5ʹ 3ʹ splice sites, could only be found greater apes human, interestingly, correlates their increased body mass longevity development.

Language: Английский

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Unprecedented female mutation bias in the aye-aye, a highly unusual lemur from Madagascar

PLoS Biology, Journal Year: 2025, Volume and Issue: 23(2), P. e3003015 - e3003015

Published: Feb. 7, 2025

Every mammal studied to date has been found have a male mutation bias: parents transmit more de novo mutations offspring than female parents, contributing increasingly with age. Although male-biased for 75 years, its causes are still debated. One obstacle understanding this pattern is near universality—without variation in bias, it difficult find an underlying cause. Here, we present new data on multiple pedigrees from two primate species: aye-ayes ( Daubentonia madagascariensis ), member of the strepsirrhine primates, and olive baboons Papio anubis ). In stark contrast across mammals, much larger effect maternal age paternal rates aye-aye. addition, older aye-aye mothers substantially fathers. We carry out both computational experimental validation our results, contrasting them results other primates using same methodologies. Further, analyze set DNA repair replication genes identify candidate that may be responsible change bias observed aye-ayes. Our demonstrate not immutable trait, but rather one can evolve between closely related species. Further work (and possibly lemuriform primates) should help explain molecular basis sex-biased mutation.

Language: Английский

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Long-read sequencing and genome assembly of natural history collection samples and challenging specimens

Genome biology, Journal Year: 2025, Volume and Issue: 26(1)

Published: Feb. 10, 2025

Museum collections harbor millions of samples, largely unutilized for long-read sequencing. Here, we use ethanol-preserved samples containing kilobase-sized DNA to show that amplification-free protocols can yield contiguous genome assemblies. Additionally, using a modified amplification-based protocol, employing an alternative polymerase overcome PCR bias, assemble the 3.1 Gb maned sloth genome, surpassing previous 500 Mb protocol size limit. Our also improves assemblies other difficult-to-sequence molluscs and arthropods, including millimeter-sized organisms. By highlighting as valuable sample resources facilitating assembly tiny challenging organisms, our study advances efforts obtain reference genomes all eukaryotes.

Language: Английский

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An atlas of early human mandibular endochondral and osteogenic paracrine signaling regions of Meckel’s cartilage

Proceedings of the National Academy of Sciences, Journal Year: 2025, Volume and Issue: 122(12)

Published: March 17, 2025

The mandible, also known as the lower jaw, is only bone in skull that can move and essential for speaking chewing. Meckel’s cartilage (MC) a temporary structure supports formation of but how MC involved ossification mandible poorly understood. Through use single-cell RNA sequencing spatial transcriptomics analyses, spatiotemporal atlas human fetuses from 7 to 15 wk postconception was established, highlighting role mandible. Importantly, we revealed two populations contributed mandibular through different mechanisms. anterior differentiate into osteolineage cells, shown an vivo lineage tracing mouse model. intermediate facilitates intramembranous cell–cell communications, possibly signaling ligands like BMP5 , BMP7 SEMA3A PDGFC FGF7 . This study suggests plays crucial mediating distinct mechanisms, providing valuable insights understanding oral craniofacial diseases disorders future.

Language: Английский

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Genomic basis of non-human-primate diversity and adaptation

Published: March 31, 2025

Language: Английский

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