Cargando…

The evolution and population diversity of human-specific segmental duplications

Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dennis, Megan Y., Harshman, Lana, Nelson, Bradley J., Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly A.F., Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A., Wilson, Richard K., Eichler, Evan E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450946/ https://www.ncbi.nlm.nih.gov/pubmed/28580430 http://dx.doi.org/10.1038/s41559-016-0069

Ejemplares similares

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
por: Nuttle, Xander, et al.
Publicado: (2016)

The birth of a human-specific neural gene by incomplete duplication and gene fusion
por: Dougherty, Max L., et al.
Publicado: (2017)

Hominoid fission of chromosome 14/15 and the role of segmental duplications
por: Giannuzzi, Giuliana, et al.
Publicado: (2013)

Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion
por: Nuttle, Xander, et al.
Publicado: (2013)

An evolutionary driver of interspersed segmental duplications in primates
por: Cantsilieris, Stuart, et al.
Publicado: (2020)

Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing
por: Alkan, Can, et al.
Publicado: (2009)

Reconstructing complex regions of genomes using long-read sequencing technology
por: Huddleston, John, et al.
Publicado: (2014)

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
por: Antonacci, Francesca, et al.
Publicado: (2014)

denovo-db: a compendium of human de novo variants
por: Turner, Tychele N., et al.
Publicado: (2017)

Transcriptional fates of human-specific segmental duplications in brain
por: Dougherty, Max L., et al.
Publicado: (2018)

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
por: Giannuzzi, Giuliana, et al.
Publicado: (2022)

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
por: Giannuzzi, Giuliana, et al.
Publicado: (2023)

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
por: Mohajeri, Kiana, et al.
Publicado: (2016)

Evolution and diversity of copy number variation in the great ape lineage
por: Sudmant, Peter H., et al.
Publicado: (2013)

Evolutionary dynamism of the primate LRRC37 gene family
por: Giannuzzi, Giuliana, et al.
Publicado: (2013)

Epigenetic origin of evolutionary novel centromeres
por: Tolomeo, Doron, et al.
Publicado: (2017)

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
por: Cantsilieris, Stuart, et al.
Publicado: (2014)

The discovery of integrated gene networks for autism and related disorders
por: Hormozdiari, Fereydoun, et al.
Publicado: (2015)

Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions
por: Kidd, Jeffrey M., et al.
Publicado: (2010)

Increased mutation and gene conversion within human segmental duplications
por: Vollger, Mitchell R., et al.
Publicado: (2023)

Ultrasensitive detection of acute myeloid leukemia minimal residual disease using single molecule molecular inversion probes
por: Waalkes, Adam, et al.
Publicado: (2017)

712. Identification of a Novel Tedizolid Resistance Mutation in rpoB of Methicillin-Resistant Staphylococcus aureus
por: Werth, Brian, et al.
Publicado: (2018)

1190. Dual-Plasmid Technology for Precision Genome Editing in Staphylococcus aureus
por: Reish, Jennifer, et al.
Publicado: (2020)

A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
por: Antonacci, Francesca, et al.
Publicado: (2010)

Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
por: Hsieh, PingHsun, et al.
Publicado: (2021)

Longitudinal report of child with de novo 16p11.2 triplication
por: Wallace, Arianne S., et al.
Publicado: (2017)

Efficient and Scalable Precision Genome Editing in Staphylococcus aureus through Conditional Recombineering and CRISPR/Cas9-Mediated Counterselection
por: Penewit, Kelsi, et al.
Publicado: (2018)

Erratum for Penewit et al., “Efficient and Scalable Precision Genome Editing in Staphylococcus aureus through Conditional Recombineering and CRISPR/Cas9-Mediated Counterselection”
por: Penewit, Kelsi, et al.
Publicado: (2018)

Erratum for Penewit et al., “Efficient and Scalable Precision Genome Editing in Staphylococcus aureus through Conditional Recombineering and CRISPR/Cas9-Mediated Counterselection”
por: Penewit, Kelsi, et al.
Publicado: (2019)

Discovery and genotyping of structural variation from long-read haploid genome sequence data
por: Huddleston, John, et al.
Publicado: (2017)

Copy number variation detection and genotyping from exome sequence data
por: Krumm, Niklas, et al.
Publicado: (2012)

Long-read sequence and assembly of segmental duplications
por: Vollger, Mitchell R., et al.
Publicado: (2018)

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies
por: Rafati, Nima, et al.
Publicado: (2016)

Interplay between DNA sequence and negative superhelicity drives R-loop structures
por: Stolz, Robert, et al.
Publicado: (2019)

Evidence for the fixation of gene duplications by positive selection in Drosophila
por: Cardoso-Moreira, Margarida, et al.
Publicado: (2016)

Molecular subtyping and improved treatment of neurodevelopmental disease
por: Stessman, Holly A. F., et al.
Publicado: (2016)

Characterization of the Mechanisms of Daptomycin Resistance among Gram-Positive Bacterial Pathogens by Multidimensional Lipidomics
por: Hines, Kelly M., et al.
Publicado: (2017)

Evolution of cefiderocol resistance in Stenotrophomonas maltophilia using in vitro serial passage techniques
por: Werth, Brian J., et al.
Publicado: (2022)

Analysis of high-identity segmental duplications in the grapevine genome
por: Giannuzzi, Giuliana, et al.
Publicado: (2011)

Signals of Historical Interlocus Gene Conversion in Human Segmental Duplications
por: Dumont, Beth L., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_t382vlhk3v3dt3vega9kd0j0mc