Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Structure, function, and genetics of lipoprotein (a)

K Schmidt, A Noureen, F Kronenberg… - Journal of lipid …, 2016 - ASBMB
Lipoprotein (a)[Lp (a)] has attracted the interest of researchers and physicians due to its
intriguing properties, including an intragenic multiallelic copy number variation in the LPA …

Human-specific NOTCH2NL genes expand cortical neurogenesis through Delta/Notch regulation

IK Suzuki, D Gacquer, R Van Heurck, D Kumar… - Cell, 2018 - cell.com
The cerebral cortex underwent rapid expansion and increased complexity during recent
hominid evolution. Gene duplications constitute a major evolutionary force, but their impact …

Mechanisms of change in gene copy number

PJ Hastings, JR Lupski, SM Rosenberg… - Nature Reviews Genetics, 2009 - nature.com
Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

Copy number variation in human health, disease, and evolution

F Zhang, W Gu, ME Hurles… - Annual review of …, 2009 - annualreviews.org
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

A microhomology-mediated break-induced replication model for the origin of human copy number variation

PJ Hastings, G Ira, JR Lupski - PLoS genetics, 2009 - journals.plos.org
Chromosome structural changes with nonrecurrent endpoints associated with genomic
disorders offer windows into the mechanism of origin of copy number variation (CNV). A …

[HTML][HTML] A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

JA Lee, CMB Carvalho, JR Lupski - cell, 2007 - cell.com
The prevailing mechanism for recurrent and some nonrecurrent rearrangements causing
genomic disorders is nonallelic homologous recombination (NAHR) between region-specific …

From evolutionary genetics to human immunology: how selection shapes host defence genes

LB Barreiro, L Quintana-Murci - Nature Reviews Genetics, 2010 - nature.com
Pathogens have always been a major cause of human mortality, so they impose strong
selective pressure on the human genome. Data from population genetic studies, including …

Comparative primate genomics: emerging patterns of genome content and dynamics

J Rogers, RA Gibbs - Nature Reviews Genetics, 2014 - nature.com
Advances in genome sequencing technologies have created new opportunities for
comparative primate genomics. Genome assemblies have been published for various …

Aquaporin water channels in mammals

K Ishibashi, S Hara, S Kondo - Clinical and experimental nephrology, 2009 - Springer
Abstract Water channels, aquaporins (AQPs), are a family of small integral plasma
membrane proteins that primarily transport water across the plasma membrane. There are …