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Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

Cell secretion is an important physiological process that ensures smooth metabolic activities and tissue repair as well as growth and immunological functions in the body. Apocrine secretion occurs when the secretory process is accomplished with a partial loss of cell cytoplasm. The secretory materia...

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Autores principales: Ishikawa, Toshihisa, Toyoda, Yu, Yoshiura, Koh-ichiro, Niikawa, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539816/
https://www.ncbi.nlm.nih.gov/pubmed/23316210
http://dx.doi.org/10.3389/fgene.2012.00306
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author Ishikawa, Toshihisa
Toyoda, Yu
Yoshiura, Koh-ichiro
Niikawa, Norio
author_facet Ishikawa, Toshihisa
Toyoda, Yu
Yoshiura, Koh-ichiro
Niikawa, Norio
author_sort Ishikawa, Toshihisa
collection PubMed
description Cell secretion is an important physiological process that ensures smooth metabolic activities and tissue repair as well as growth and immunological functions in the body. Apocrine secretion occurs when the secretory process is accomplished with a partial loss of cell cytoplasm. The secretory materials are contained within secretory vesicles and are released during secretion as cytoplasmic fragments into the glandular lumen or interstitial space. The recent finding that the non-synonymous single nucleotide polymorphisms (SNP) 538G > A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in humans has shed light on the novel function of this ABC (ATP-binding cassette) transporter in apocrine glands. The wild-type (Gly180) of ABCC11 is associated with wet-type earwax, axillary osmidrosis, and colostrum secretion from the mammary gland as well as the potential risk of mastopathy. Furthermore, the SNP (538G > A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this review article is to provide an overview on the discovery and characterization of genetic polymorphisms in the human ABCC11 gene and to explain the impact of ABCC11 538G > A on the apocrine phenotype as well as the anthropological aspect of this SNP in the ABCC11 gene and patients’ response to nucleoside-based chemotherapy.
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spelling pubmed-35398162013-01-11 Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion Ishikawa, Toshihisa Toyoda, Yu Yoshiura, Koh-ichiro Niikawa, Norio Front Genet Pharmacology Cell secretion is an important physiological process that ensures smooth metabolic activities and tissue repair as well as growth and immunological functions in the body. Apocrine secretion occurs when the secretory process is accomplished with a partial loss of cell cytoplasm. The secretory materials are contained within secretory vesicles and are released during secretion as cytoplasmic fragments into the glandular lumen or interstitial space. The recent finding that the non-synonymous single nucleotide polymorphisms (SNP) 538G > A (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax in humans has shed light on the novel function of this ABC (ATP-binding cassette) transporter in apocrine glands. The wild-type (Gly180) of ABCC11 is associated with wet-type earwax, axillary osmidrosis, and colostrum secretion from the mammary gland as well as the potential risk of mastopathy. Furthermore, the SNP (538G > A) in the ABCC11 gene is suggested to be a clinical biomarker for the prediction of chemotherapeutic efficacy. The aim of this review article is to provide an overview on the discovery and characterization of genetic polymorphisms in the human ABCC11 gene and to explain the impact of ABCC11 538G > A on the apocrine phenotype as well as the anthropological aspect of this SNP in the ABCC11 gene and patients’ response to nucleoside-based chemotherapy. Frontiers Media S.A. 2013-01-02 /pmc/articles/PMC3539816/ /pubmed/23316210 http://dx.doi.org/10.3389/fgene.2012.00306 Text en Copyright © Ishikawa, Toyoda, Yoshiura and Niikawa. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.
spellingShingle Pharmacology
Ishikawa, Toshihisa
Toyoda, Yu
Yoshiura, Koh-ichiro
Niikawa, Norio
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title_full Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title_fullStr Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title_full_unstemmed Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title_short Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion
title_sort pharmacogenetics of human abc transporter abcc11: new insights into apocrine gland growth and metabolite secretion
topic Pharmacology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539816/
https://www.ncbi.nlm.nih.gov/pubmed/23316210
http://dx.doi.org/10.3389/fgene.2012.00306
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