Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.
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DOI：
10.3389/fgene.2012.00306
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发表时间：
2012
影响因子：
3.7
通讯作者：
Niikawa N
中科院分区：
文献类型：
--
作者：
Ishikawa T;Toyoda Y;Yoshiura K;Niikawa N
细胞分泌是保证体内新陈代谢活动和组织修复以及生长和免疫功能顺利进行的重要生理过程。当分泌过程在细胞质部分损失的情况下完成时，就会发生顶浆分泌。分泌物质包含在分泌小泡内，并在分泌过程中作为细胞质碎片释放到腺腔或间质空间中。最近发现 ABCC11 基因中的非同义单核苷酸多态性 (SNP) 538G > A (rs17822931; Gly180Arg) 决定了人类耳垢的类型，这揭示了顶浆腺中 ABC（ATP 结合盒）转运蛋白的新功能。 ABCC11的野生型（Gly180）与湿型耳垢、腋臭、乳腺初乳分泌以及乳腺病的潜在风险有关。此外，ABCC11基因中的SNP（538G>A）被建议作为预测化疗效果的临床生物标志物。本综述文章的目的是概述人类 ABCC11 基因遗传多态性的发现和表征，并解释 ABCC11 538G > A 对顶浆分泌表型的影响以及 ABCC11 基因中该 SNP 的人类学方面以及患者对核苷化疗的反应。
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.