A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice

Autores
Kamm, Gretel Betiana; Lorenzo Lopez, Juan Ramiro; Lorenzo Lopez, Juan Ramiro; Franchini, Lucia Florencia
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The developmental brain gene NPAS3 stands out as a hot spot in human evolution since it contains the largest number of human-specific fast-evolving conserved non-coding elements. In this paper we studied 2xHAR142, one of these elements that is located in the 5th intron of NPAS3. Using transgenic mice we show that the mouse and chimp 2xHAR142 orthologs behave as transcriptional enhancers driving expression of the reporter gene lacZ to a similar NPAS3 expression subdomain in the mouse central nervous system. Interestingly, the human 2xHAR142 ortholog drives lacZ expression to an extended expression pattern in the nervous system. Thus, molecular evolution of 2xHAR142 provides a first documented example of human-specific heterotopy in the forebrain promoted by a transcriptional enhancer and suggests that it may have contributed to assemble the unique properties of the human brain.
Fil: Kamm, Gretel Betiana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina. Centro de Estudios Científicos de Chile; Chile
Fil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Materia
Npas3
Brain
Evolution
Schizophrenia
Exaptation
Mir
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/4000
Acceder
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic miceKamm, Gretel BetianaLorenzo Lopez, Juan RamiroLorenzo Lopez, Juan RamiroFranchini, Lucia FlorenciaNpas3BrainEvolutionSchizophreniaExaptationMirhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The developmental brain gene NPAS3 stands out as a hot spot in human evolution since it contains the largest number of human-specific fast-evolving conserved non-coding elements. In this paper we studied 2xHAR142, one of these elements that is located in the 5th intron of NPAS3. Using transgenic mice we show that the mouse and chimp 2xHAR142 orthologs behave as transcriptional enhancers driving expression of the reporter gene lacZ to a similar NPAS3 expression subdomain in the mouse central nervous system. Interestingly, the human 2xHAR142 ortholog drives lacZ expression to an extended expression pattern in the nervous system. Thus, molecular evolution of 2xHAR142 provides a first documented example of human-specific heterotopy in the forebrain promoted by a transcriptional enhancer and suggests that it may have contributed to assemble the unique properties of the human brain.Fil: Kamm, Gretel Betiana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; ArgentinaFil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina. Centro de Estudios Científicos de Chile; ChileFil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; ArgentinaFil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; ArgentinaThe Royal Society2013-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/4000Kamm, Gretel Betiana; Lorenzo Lopez, Juan Ramiro; Lorenzo Lopez, Juan Ramiro; Franchini, Lucia Florencia; A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice; The Royal Society; Philosophical Transactions of the Royal Society B: Biological Sciences; 368; 1632; 11-2013; 1-110962-8436enginfo:eu-repo/semantics/altIdentifier/url/http://rstb.royalsocietypublishing.org/content/368/1632/20130019.longinfo:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826493/info:eu-repo/semantics/altIdentifier/url/http://dx.doi.org/10.1098%2Frstb.2013.0019info:eu-repo/semantics/altIdentifier/issn/0962-8436info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:25:45Zoai:ri.conicet.gov.ar:11336/4000instacron: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 11:25:46.177CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
title A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
spellingShingle A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
Kamm, Gretel Betiana
Npas3
Brain
Evolution
Schizophrenia
Exaptation
Mir
title_short A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
title_full A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
title_fullStr A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
title_full_unstemmed A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
title_sort A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice
dc.creator.none.fl_str_mv Kamm, Gretel Betiana
Lorenzo Lopez, Juan Ramiro
Lorenzo Lopez, Juan Ramiro
Franchini, Lucia Florencia
author Kamm, Gretel Betiana
author_facet Kamm, Gretel Betiana
Lorenzo Lopez, Juan Ramiro
Franchini, Lucia Florencia
author_role author
author2 Lorenzo Lopez, Juan Ramiro
Franchini, Lucia Florencia
author2_role author
author
dc.subject.none.fl_str_mv Npas3
Brain
Evolution
Schizophrenia
Exaptation
Mir
topic Npas3
Brain
Evolution
Schizophrenia
Exaptation
Mir
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv The developmental brain gene NPAS3 stands out as a hot spot in human evolution since it contains the largest number of human-specific fast-evolving conserved non-coding elements. In this paper we studied 2xHAR142, one of these elements that is located in the 5th intron of NPAS3. Using transgenic mice we show that the mouse and chimp 2xHAR142 orthologs behave as transcriptional enhancers driving expression of the reporter gene lacZ to a similar NPAS3 expression subdomain in the mouse central nervous system. Interestingly, the human 2xHAR142 ortholog drives lacZ expression to an extended expression pattern in the nervous system. Thus, molecular evolution of 2xHAR142 provides a first documented example of human-specific heterotopy in the forebrain promoted by a transcriptional enhancer and suggests that it may have contributed to assemble the unique properties of the human brain.
Fil: Kamm, Gretel Betiana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina. Centro de Estudios Científicos de Chile; Chile
Fil: Lorenzo Lopez, Juan Ramiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
description The developmental brain gene NPAS3 stands out as a hot spot in human evolution since it contains the largest number of human-specific fast-evolving conserved non-coding elements. In this paper we studied 2xHAR142, one of these elements that is located in the 5th intron of NPAS3. Using transgenic mice we show that the mouse and chimp 2xHAR142 orthologs behave as transcriptional enhancers driving expression of the reporter gene lacZ to a similar NPAS3 expression subdomain in the mouse central nervous system. Interestingly, the human 2xHAR142 ortholog drives lacZ expression to an extended expression pattern in the nervous system. Thus, molecular evolution of 2xHAR142 provides a first documented example of human-specific heterotopy in the forebrain promoted by a transcriptional enhancer and suggests that it may have contributed to assemble the unique properties of the human brain.
publishDate 2013
dc.date.none.fl_str_mv 2013-11
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/11336/4000
Kamm, Gretel Betiana; Lorenzo Lopez, Juan Ramiro; Lorenzo Lopez, Juan Ramiro; Franchini, Lucia Florencia; A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice; The Royal Society; Philosophical Transactions of the Royal Society B: Biological Sciences; 368; 1632; 11-2013; 1-11
0962-8436
url http://hdl.handle.net/11336/4000
identifier_str_mv Kamm, Gretel Betiana; Lorenzo Lopez, Juan Ramiro; Lorenzo Lopez, Juan Ramiro; Franchini, Lucia Florencia; A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice; The Royal Society; Philosophical Transactions of the Royal Society B: Biological Sciences; 368; 1632; 11-2013; 1-11
0962-8436
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://rstb.royalsocietypublishing.org/content/368/1632/20130019.long
info:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826493/
info:eu-repo/semantics/altIdentifier/url/http://dx.doi.org/10.1098%2Frstb.2013.0019
info:eu-repo/semantics/altIdentifier/issn/0962-8436
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv The Royal Society
publisher.none.fl_str_mv The Royal Society
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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