Can a few non-coding mutations make a human brain?
- Autores
- Franchini, Lucia Florencia; Pollard, Katherine S.
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits.
Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California; Estados Unidos - Materia
-
DEVELOPMENT
EVOLUTION
GENE REGULATION
NEUROSCIENCE - 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:11336/79416
Ver los metadatos del registro completo
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Can a few non-coding mutations make a human brain?Franchini, Lucia FlorenciaPollard, Katherine S.DEVELOPMENTEVOLUTIONGENE REGULATIONNEUROSCIENCEhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits.Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California; Estados UnidosJohn Wiley & Sons Inc2015-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/79416Franchini, Lucia Florencia; Pollard, Katherine S.; Can a few non-coding mutations make a human brain?; John Wiley & Sons Inc; Bioessays; 37; 10; 10-2015; 1054-10610265-9247CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/bies.201500049info:eu-repo/semantics/altIdentifier/doi/10.1002/bies.201500049info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:43:46Zoai:ri.conicet.gov.ar:11336/79416instacron: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 09:43:46.454CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Can a few non-coding mutations make a human brain? |
title |
Can a few non-coding mutations make a human brain? |
spellingShingle |
Can a few non-coding mutations make a human brain? Franchini, Lucia Florencia DEVELOPMENT EVOLUTION GENE REGULATION NEUROSCIENCE |
title_short |
Can a few non-coding mutations make a human brain? |
title_full |
Can a few non-coding mutations make a human brain? |
title_fullStr |
Can a few non-coding mutations make a human brain? |
title_full_unstemmed |
Can a few non-coding mutations make a human brain? |
title_sort |
Can a few non-coding mutations make a human brain? |
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 |
DEVELOPMENT EVOLUTION GENE REGULATION NEUROSCIENCE |
topic |
DEVELOPMENT EVOLUTION GENE REGULATION NEUROSCIENCE |
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 recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits. Fil: Franchini, Lucia Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Pollard, Katherine S.. Gladstone Institutes; Estados Unidos. University of California; Estados Unidos |
description |
The recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-10 |
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/11336/79416 Franchini, Lucia Florencia; Pollard, Katherine S.; Can a few non-coding mutations make a human brain?; John Wiley & Sons Inc; Bioessays; 37; 10; 10-2015; 1054-1061 0265-9247 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/79416 |
identifier_str_mv |
Franchini, Lucia Florencia; Pollard, Katherine S.; Can a few non-coding mutations make a human brain?; John Wiley & Sons Inc; Bioessays; 37; 10; 10-2015; 1054-1061 0265-9247 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/bies.201500049 info:eu-repo/semantics/altIdentifier/doi/10.1002/bies.201500049 |
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 |
dc.publisher.none.fl_str_mv |
John Wiley & Sons Inc |
publisher.none.fl_str_mv |
John Wiley & Sons Inc |
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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13.070432 |