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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/4000
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T09:56:35Zoai: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:34982025-09-29 09:56:35.722CONICET 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 |
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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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