Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C+28 more
core +3 more sources
The Role of Retrotransposons in Gene Family Expansions: Insights from the Mouse \u3ci\u3eAbp\u3c/i\u3e Gene Family [PDF]
Background: Retrotransposons have been suggested to provide a substrate for non-allelic homologous recombination (NAHR) and thereby promote gene family expansion. Their precise role, however, is controversial.
Janoušek, Václav+2 more
core +2 more sources
Complexity Insights of the Minimum Duplication Problem [PDF]
International audienceThe Minimum Duplication problem is a well-known problem in phylogenetics and comparative genomics. Given a set of gene trees, the Minimum Duplication problem asks for a species tree that induces the minimum number of gene ...
Blin, Guillaume+4 more
core +3 more sources
Copy-number changes in evolution: rates, fitness effects and adaptive significance
Gene copy-number differences due to gene duplications and deletions are rampant in natural populations and play a crucial role in the evolution of genome complexity.
Vaishali eKatju, Ulfar eBergthorsson
doaj +1 more source
Parallel reorganization of protein function in the spindle checkpoint pathway through evolutionary paths in the fitness landscape that appear neutral in laboratory experiments. [PDF]
Regulatory networks often increase in complexity during evolution through gene duplication and divergence of component proteins. Two models that explain this increase in complexity are: 1) adaptive changes after gene duplication, such as resolution of ...
Alex N Nguyen Ba+5 more
doaj +1 more source
Revealing mammalian evolutionary relationships by comparative analysis of gene clusters [PDF]
Many software tools for comparative analysis of genomic sequence data have been released in recent decades. Despite this, it remains challenging to determine evolutionary relationships in gene clusters due to their complex histories involving ...
Abi-Rached+89 more
core +2 more sources
Background: Very few reports are available on human XX ovotesticular disorder of sex development involving SOX3 gene duplication. Here we aim to present a rare case of SOX3 gene duplication in a person from the Chinese population who exhibits XX ...
Jianlong Zhuang+9 more
doaj +1 more source
The evolution of gene duplicates in angiosperms and the impact of protein-protein interactions and the mechanism of duplication [PDF]
Gene duplicates, generated through either whole genome duplication (WGD) or small-scale duplication (SSD), are prominent in angiosperms and are believed to play an important role in adaptation and in generating evolutionary novelty.
Carretero-Paulet, Lorenzo+2 more
core +2 more sources
Candida auris is an emerging multi-drug resistant yeast that causes systemic infections. Here we show that C. auris undergoes replicative aging (RA) that results from asymmetric cell division and causes phenotypic differences between mother and daughter ...
Somanon Bhattacharya+3 more
semanticscholar +1 more source
Going nuclear: gene family evolution and vertebrate phylogeny reconciled [PDF]
Gene duplications have been common throughout vertebrate evolution, introducing paralogy and so complicating phylogenctic inference from nuclear genes.
James A. Cotton+6 more
core +4 more sources