Primate segmental duplications: crucibles of evolution, diversity and disease

JA Bailey, EE Eichler - Nature Reviews Genetics, 2006 - nature.com
Compared with other mammals, the genomes of humans and other primates show an
enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence …

Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species

MV Suntsova, AA Buzdin - BMC genomics, 2020 - Springer
Chimpanzees are the closest living relatives of humans. The divergence between human
and chimpanzee ancestors dates to approximately 6, 5–7, 5 million years ago. Genetic …

Chromosome inversions, local adaptation and speciation

M Kirkpatrick, N Barton - Genetics, 2006 - academic.oup.com
We study the evolution of inversions that capture locally adapted alleles when two
populations are exchanging migrants or hybridizing. By suppressing recombination between …

Complete sequencing of ape genomes

DA Yoo, A Rhie, P Hebbar, F Antonacci… - BioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
We present haplotype-resolved reference genomes and comparative analyses of six ape
species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan …

An assessment of the sequence gaps: unfinished business in a finished human genome

EE Eichler, RA Clark, X She - Nature Reviews Genetics, 2004 - nature.com
Biological research increasingly depends on'finished'genome sequences. Deducing what is
absent from these sequences is not trivial. More than 99% of the euchromatic portion of the …

The origins and impact of primate segmental duplications

T Marques-Bonet, S Girirajan, EE Eichler - Trends in Genetics, 2009 - cell.com
Duplicated sequences are substrates for the emergence of new genes and are an important
source of genetic instability associated with rare and common diseases. Analyses of primate …

A genome-wide survey of structural variation between human and chimpanzee

TL Newman, E Tuzun, VA Morrison… - Genome …, 2005 - genome.cshlp.org
Structural changes (deletions, insertions, and inversions) between human and chimpanzee
genomes have likely had a significant impact on lineage-specific evolution because of their …

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

L Skipper, K Wilkes, M Toft, M Baker, S Lincoln… - The American Journal of …, 2004 - cell.com
The MAPT H1 haplotype has been associated with four-repeat (4R) tauopathies, including
progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease …

Is mammalian chromosomal evolution driven by regions of genome fragility?

A Ruiz-Herrera, J Castresana, TJ Robinson - Genome biology, 2006 - Springer
Background A fundamental question in comparative genomics concerns the identification of
mechanisms that underpin chromosomal change. In an attempt to shed light on the …

Comparative primate genomics

W Enard, S Pääbo - Annu. Rev. Genomics Hum. Genet., 2004 - annualreviews.org
▪ Abstract With the completion of the human genome sequence and the advent of
technologies to study functional aspects of genomes, molecular comparisons between …