Gene expansions contributing to human brain evolution DOI Creative Commons
Daniela C. Soto, José M. Uribe‐Salazar, Gulhan Kaya

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 26, 2024

Genomic drivers of human-specific neurological traits remain largely undiscovered. Duplicated genes expanded uniquely in the human lineage likely contributed to brain evolution, including increased complexity synaptic connections between neurons and dramatic expansion neocortex. Discovering duplicate is challenging because similarity paralogs makes them prone sequence-assembly errors. To mitigate this issue, we analyzed a complete telomere-to-telomere genome sequence (T2T-CHM13) identified 213 duplicated gene families containing (>98% identity). Positing that important universal features should exist with at least one copy all modern humans exhibit expression brain, narrowed on 362 across thousands ancestrally diverse genomes present transcriptomes. Of these, 38 co-express modules enriched for autism-associated potentially contribute language cognition. We 13 are fixed among show convincing patterns. Using long-read DNA sequencing revealed hidden variation 200 ancestries, uncovering signatures selection not previously identified, possible balancing

Language: Английский

A Hitchhiker's Guide to long-read genomic analysis DOI
Medhat Mahmoud, Daniel Paiva Agustinho, Fritz J. Sedlazeck

et al.

Genome Research, Journal Year: 2025, Volume and Issue: 35(4), P. 545 - 558

Published: April 1, 2025

Over the past decade, long-read sequencing has evolved into a pivotal technology for uncovering hidden and complex regions of genome. Significant cost efficiency, scalability, accuracy advancements have driven this evolution. Concurrently, novel analytical methods emerged to harness full potential long reads. These enabled milestones such as first fully completed human genome, enhanced identification understanding genomic variants, deeper insights interplay between epigenetics variation. This mini-review provides comprehensive overview latest developments in DNA analysis, encompassing reference-based de novo assembly approaches. We explore entire workflow, from initial data processing variant calling annotation, focusing on how these improve our ability interpret wide array variants. Additionally, we discuss current challenges, limitations, future directions field, offering detailed examination state-of-the-art bioinformatics sequencing.

Language: Английский

Citations

1
Editorial overview: Peering into our history through a genetic lens: How advances in genetics are changing our understanding of human evolution DOI
Jason L. Stein, Alex A. Pollen

Current Opinion in Genetics & Development, Journal Year: 2025, Volume and Issue: 92, P. 102326 - 102326

Published: Feb. 24, 2025

Language: Английский

Citations

0
Genomic basis of non-human-primate diversity and adaptation DOI
Christian Roos,

Lakshmi Seshadri,

Liye Zhang

et al.

Published: March 31, 2025

Language: Английский

Citations

0
Gene expansions contributing to human brain evolution DOI Creative Commons
Daniela C. Soto, José M. Uribe‐Salazar, Gulhan Kaya

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 26, 2024

Genomic drivers of human-specific neurological traits remain largely undiscovered. Duplicated genes expanded uniquely in the human lineage likely contributed to brain evolution, including increased complexity synaptic connections between neurons and dramatic expansion neocortex. Discovering duplicate is challenging because similarity paralogs makes them prone sequence-assembly errors. To mitigate this issue, we analyzed a complete telomere-to-telomere genome sequence (T2T-CHM13) identified 213 duplicated gene families containing (>98% identity). Positing that important universal features should exist with at least one copy all modern humans exhibit expression brain, narrowed on 362 across thousands ancestrally diverse genomes present transcriptomes. Of these, 38 co-express modules enriched for autism-associated potentially contribute language cognition. We 13 are fixed among show convincing patterns. Using long-read DNA sequencing revealed hidden variation 200 ancestries, uncovering signatures selection not previously identified, possible balancing

Language: Английский

Citations

1