Genomic approaches to studying human-specific developmental traits

Autores
Franchini, Lucia Florencia; Pollard, Katherine S.
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Changes in developmental regulatory programs drive both disease and phenotypic differences among species. Linking human-specific traits to alterations in development is challenging, because we have lacked the tools to assay and manipulate regulatory networks in human and primate embryonic cells. This field was transformed by the sequencing of hundreds of genomes - human and non-human - that can be compared to discover the regulatory machinery of genes involved in human development. This approach has identified thousands of human-specific genome alterations in developmental genes and their regulatory regions. With recent advances in stem cell techniques, genome engineering, and genomics, we can now test these sequences for effects on developmental gene regulation and downstream phenotypes in human cells and tissues.
Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California. Department of Epidemiology & Biostatistics. Institute for Human Genetics; Estados Unidos
Materia
Evolution
Humans
Brain
Primates
Nivel de accesibilidad
acceso embargado
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/4002
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Genomic approaches to studying human-specific developmental traitsFranchini, Lucia FlorenciaPollard, Katherine S.EvolutionHumansBrainPrimateshttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Changes in developmental regulatory programs drive both disease and phenotypic differences among species. Linking human-specific traits to alterations in development is challenging, because we have lacked the tools to assay and manipulate regulatory networks in human and primate embryonic cells. This field was transformed by the sequencing of hundreds of genomes - human and non-human - that can be compared to discover the regulatory machinery of genes involved in human development. This approach has identified thousands of human-specific genome alterations in developmental genes and their regulatory regions. With recent advances in stem cell techniques, genome engineering, and genomics, we can now test these sequences for effects on developmental gene regulation and downstream phenotypes in human cells and tissues.Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; ArgentinaFil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California. Department of Epidemiology & Biostatistics. Institute for Human Genetics; Estados UnidosCompany of Biologists2015-09info:eu-repo/date/embargoEnd/2016-10-31info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/4002Franchini, Lucia Florencia; Pollard, Katherine S.; Genomic approaches to studying human-specific developmental traits; Company of Biologists; Development; 142; 9-2015; 3100-31120950-1991enginfo:eu-repo/semantics/altIdentifier/url/http://dev.biologists.org/content/142/18/3100.longinfo:eu-repo/semantics/altIdentifier/doi/doi:10.1242/dev.120048info:eu-repo/semantics/altIdentifier/issn/0950-1991info:eu-repo/semantics/embargoedAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:38:38Zoai:ri.conicet.gov.ar:11336/4002instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:38:38.365CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genomic approaches to studying human-specific developmental traits
title Genomic approaches to studying human-specific developmental traits
spellingShingle Genomic approaches to studying human-specific developmental traits
Franchini, Lucia Florencia
Evolution
Humans
Brain
Primates
title_short Genomic approaches to studying human-specific developmental traits
title_full Genomic approaches to studying human-specific developmental traits
title_fullStr Genomic approaches to studying human-specific developmental traits
title_full_unstemmed Genomic approaches to studying human-specific developmental traits
title_sort Genomic approaches to studying human-specific developmental traits
dc.creator.none.fl_str_mv Franchini, Lucia Florencia
Pollard, Katherine S.
author Franchini, Lucia Florencia
author_facet Franchini, Lucia Florencia
Pollard, Katherine S.
author_role author
author2 Pollard, Katherine S.
author2_role author
dc.subject.none.fl_str_mv Evolution
Humans
Brain
Primates
topic Evolution
Humans
Brain
Primates
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Changes in developmental regulatory programs drive both disease and phenotypic differences among species. Linking human-specific traits to alterations in development is challenging, because we have lacked the tools to assay and manipulate regulatory networks in human and primate embryonic cells. This field was transformed by the sequencing of hundreds of genomes - human and non-human - that can be compared to discover the regulatory machinery of genes involved in human development. This approach has identified thousands of human-specific genome alterations in developmental genes and their regulatory regions. With recent advances in stem cell techniques, genome engineering, and genomics, we can now test these sequences for effects on developmental gene regulation and downstream phenotypes in human cells and tissues.
Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California. Department of Epidemiology & Biostatistics. Institute for Human Genetics; Estados Unidos
description Changes in developmental regulatory programs drive both disease and phenotypic differences among species. Linking human-specific traits to alterations in development is challenging, because we have lacked the tools to assay and manipulate regulatory networks in human and primate embryonic cells. This field was transformed by the sequencing of hundreds of genomes - human and non-human - that can be compared to discover the regulatory machinery of genes involved in human development. This approach has identified thousands of human-specific genome alterations in developmental genes and their regulatory regions. With recent advances in stem cell techniques, genome engineering, and genomics, we can now test these sequences for effects on developmental gene regulation and downstream phenotypes in human cells and tissues.
publishDate 2015
dc.date.none.fl_str_mv 2015-09
info:eu-repo/date/embargoEnd/2016-10-31
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/4002
Franchini, Lucia Florencia; Pollard, Katherine S.; Genomic approaches to studying human-specific developmental traits; Company of Biologists; Development; 142; 9-2015; 3100-3112
0950-1991
url http://hdl.handle.net/11336/4002
identifier_str_mv Franchini, Lucia Florencia; Pollard, Katherine S.; Genomic approaches to studying human-specific developmental traits; Company of Biologists; Development; 142; 9-2015; 3100-3112
0950-1991
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://dev.biologists.org/content/142/18/3100.long
info:eu-repo/semantics/altIdentifier/doi/doi:10.1242/dev.120048
info:eu-repo/semantics/altIdentifier/issn/0950-1991
dc.rights.none.fl_str_mv info:eu-repo/semantics/embargoedAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv embargoedAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Company of Biologists
publisher.none.fl_str_mv Company of Biologists
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.982451

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