Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness

Autores
Dalamon, Viviana Karina; Fiori, Mariana C.; Figueroa, Vania A.; Oliva, Carolina A.; del Rio, Rodrigo; Gonzalez, Wendy; Canan, Jonathan; Elgoyhen, Ana Belen; Altenberg, Guillermo A.; Retamal, Mauricio A.
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Gap-junction channels (GJCs) are formed by headto-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/ cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Fiori, Mariana C.. Texas Tech University; Estados Unidos
Fil: Figueroa, Vania A.. Universidad del Desarrollo; Chile
Fil: Oliva, Carolina A.. Universidad del Desarrollo; Chile
Fil: del Rio, Rodrigo. Universidad Autónoma de Chile; Chile
Fil: Gonzalez, Wendy. Universidad de Talca; Chile
Fil: Canan, Jonathan. Universidad de Talca; Chile
Fil: Elgoyhen, Ana Belen. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Altenberg, Guillermo A.. Texas Tech University; Estados Unidos
Fil: Retamal, Mauricio A.. Universidad del Desarrollo; Chile. Texas Tech University; Estados Unidos
Materia
Deafness
Connexins
Gap-Junction Channels
Mutation
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:11336/44334
Acceder
id CONICETDig_9dd95d830d55ae687642326fdb7ee27d
oai_identifier_str oai:ri.conicet.gov.ar:11336/44334
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafnessDalamon, Viviana KarinaFiori, Mariana C.Figueroa, Vania A.Oliva, Carolina A.del Rio, RodrigoGonzalez, WendyCanan, JonathanElgoyhen, Ana BelenAltenberg, Guillermo A.Retamal, Mauricio A.DeafnessConnexinsGap-Junction ChannelsMutationhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Gap-junction channels (GJCs) are formed by headto-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/ cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Fiori, Mariana C.. Texas Tech University; Estados UnidosFil: Figueroa, Vania A.. Universidad del Desarrollo; ChileFil: Oliva, Carolina A.. Universidad del Desarrollo; ChileFil: del Rio, Rodrigo. Universidad Autónoma de Chile; ChileFil: Gonzalez, Wendy. Universidad de Talca; ChileFil: Canan, Jonathan. Universidad de Talca; ChileFil: Elgoyhen, Ana Belen. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Altenberg, Guillermo A.. Texas Tech University; Estados UnidosFil: Retamal, Mauricio A.. Universidad del Desarrollo; Chile. Texas Tech University; Estados UnidosSpringer2016-05info: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/11336/44334Dalamon, Viviana Karina; Fiori, Mariana C.; Figueroa, Vania A.; Oliva, Carolina A.; del Rio, Rodrigo; et al.; Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness; Springer; Pflugers Archiv-European Journal of Physiology; 468; 5; 5-2016; 909-9180031-67681432-2013CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1007/s00424-016-1788-7info:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs00424-016-1788-7info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:44:57Zoai:ri.conicet.gov.ar:11336/44334instacron: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:34982025-09-03 09:44:57.489CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
title Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
spellingShingle Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
Dalamon, Viviana Karina
Deafness
Connexins
Gap-Junction Channels
Mutation
title_short Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
title_full Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
title_fullStr Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
title_full_unstemmed Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
title_sort Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
dc.creator.none.fl_str_mv Dalamon, Viviana Karina
Fiori, Mariana C.
Figueroa, Vania A.
Oliva, Carolina A.
del Rio, Rodrigo
Gonzalez, Wendy
Canan, Jonathan
Elgoyhen, Ana Belen
Altenberg, Guillermo A.
Retamal, Mauricio A.
author Dalamon, Viviana Karina
author_facet Dalamon, Viviana Karina
Fiori, Mariana C.
Figueroa, Vania A.
Oliva, Carolina A.
del Rio, Rodrigo
Gonzalez, Wendy
Canan, Jonathan
Elgoyhen, Ana Belen
Altenberg, Guillermo A.
Retamal, Mauricio A.
author_role author
author2 Fiori, Mariana C.
Figueroa, Vania A.
Oliva, Carolina A.
del Rio, Rodrigo
Gonzalez, Wendy
Canan, Jonathan
Elgoyhen, Ana Belen
Altenberg, Guillermo A.
Retamal, Mauricio A.
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Deafness
Connexins
Gap-Junction Channels
Mutation
topic Deafness
Connexins
Gap-Junction Channels
Mutation
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Gap-junction channels (GJCs) are formed by headto-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/ cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Fiori, Mariana C.. Texas Tech University; Estados Unidos
Fil: Figueroa, Vania A.. Universidad del Desarrollo; Chile
Fil: Oliva, Carolina A.. Universidad del Desarrollo; Chile
Fil: del Rio, Rodrigo. Universidad Autónoma de Chile; Chile
Fil: Gonzalez, Wendy. Universidad de Talca; Chile
Fil: Canan, Jonathan. Universidad de Talca; Chile
Fil: Elgoyhen, Ana Belen. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Altenberg, Guillermo A.. Texas Tech University; Estados Unidos
Fil: Retamal, Mauricio A.. Universidad del Desarrollo; Chile. Texas Tech University; Estados Unidos
description Gap-junction channels (GJCs) are formed by headto-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/ cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.
publishDate 2016
dc.date.none.fl_str_mv 2016-05
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/11336/44334
Dalamon, Viviana Karina; Fiori, Mariana C.; Figueroa, Vania A.; Oliva, Carolina A.; del Rio, Rodrigo; et al.; Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness; Springer; Pflugers Archiv-European Journal of Physiology; 468; 5; 5-2016; 909-918
0031-6768
1432-2013
CONICET Digital
CONICET
url http://hdl.handle.net/11336/44334
identifier_str_mv Dalamon, Viviana Karina; Fiori, Mariana C.; Figueroa, Vania A.; Oliva, Carolina A.; del Rio, Rodrigo; et al.; Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness; Springer; Pflugers Archiv-European Journal of Physiology; 468; 5; 5-2016; 909-918
0031-6768
1432-2013
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1007/s00424-016-1788-7
info:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs00424-016-1788-7
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 Springer
publisher.none.fl_str_mv Springer
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
_version_ 1842268699867742208
score 13.13397

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