Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes

JK Kulski, S Suzuki, T Shiina - Human Genome Variation, 2022 - nature.com
Abstract The human Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen
(HLA) super-locus is a highly polymorphic genomic region that encodes more than 140 …

Effects of urban living environments on mental health in adults

J Xu, N Liu, E Polemiti, L Garcia-Mondragon, J Tang… - Nature medicine, 2023 - nature.com
Urban-living individuals are exposed to many environmental factors that may combine and
interact to influence mental health. While individual factors of an urban environment have …

[HTML][HTML] Chromosomal inversion polymorphisms shape human brain morphology

H Wang, C Makowski, Y Zhang, A Qi, T Kaufmann… - Cell reports, 2023 - cell.com
The impact of chromosomal inversions on human brain morphology remains underexplored.
We studied 35 common inversions classified from genotypes of 33,018 adults with European …

Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases

C Pedicone, SA Weitzman, AE Renton… - Molecular …, 2024 - Springer
A~ 1 Mb inversion polymorphism exists within the 17q21. 31 locus of the human genome as
direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high …

Genomic hotspots of chromosome rearrangements explain conserved synteny despite high rates of chromosome evolution in a holocentric lineage

M Escudero, A Marques, K Lucek, AL Hipp - Molecular Ecology, 2024 - Wiley Online Library
Holocentric organisms, unlike typical monocentric organisms, have kinetochore activity
distributed along almost the whole length of the chromosome. Because of this, chromosome …

Impact of population structure in the estimation of recent historical effective population size by the software GONE

I Novo, P Ordás, N Moraga, E Santiago… - Genetics Selection …, 2023 - Springer
Background Effective population size (N e) is a crucial parameter in conservation genetics
and animal breeding. A recent method, implemented by the software GONE, has been …

Genomic architecture of supergenes: connecting form and function

EL Berdan, T Flatt, GM Kozak… - … of the Royal …, 2022 - royalsocietypublishing.org
Supergenes are tightly linked sets of loci that are inherited together and control complex
phenotypes. While classical supergenes—governing traits such as wing patterns in …

Identifying genetic variants associated with chromatin looping and genome function

S Bhattacharyya, F Ay - Nature Communications, 2024 - nature.com
Here we present a comprehensive HiChIP dataset on naïve CD4 T cells (nCD4) from 30
donors and identify QTLs that associate with genotype-dependent and/or allele-specific …

Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits

S Gokuladhas, T Fadason, S Farrow, A Cooper… - npj Parkinson's …, 2024 - nature.com
Understanding the biological mechanisms that underlie the non-motor symptoms of
Parkinson's disease (PD) requires comprehensive frameworks that unravel the complex …

The shared genetic architecture and evolution of human language and musical rhythm

G Alagöz, E Eising, Y Mekki, G Bignardi… - Nature Human …, 2024 - nature.com
This study aimed to test theoretical predictions over biological underpinnings of previously
documented phenotypic correlations between human language-related and musical rhythm …