ABCMdb

ABCC11 p.Gly180Arg

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PMID: 21567408 [PubMed] Nakagawa H et al: "Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts."

No. Sentence Comment

49 Among them, the SNP 538G>A has been found to greatly affect the function and stability of de novo synthesized ABCC11 protein.50 The SNP 538G>A causes amino acid substitution at 180 (Gly180Arg) in the first transmembrane helix (TM1) and impairs N-linked glycosylation of the de novo synthesized ABCC11 protein. Login to comment

PMID: 21103974 [PubMed] Keppler D et al: "Multidrug resistance proteins (MRPs, ABCCs): importance for pathophysiology and drug therapy."

No. Sentence Comment

265 The single-nucleotide polymorphism 538G>A in the ABCC11 gene, corresponding to the Gly180Arg variant in human MRP8, determines the earwax type (Yoshiura et al. 2006; Toyoda et al. 2009) and prevents the secretion of amino acid conjugates determining human axillary odor (Martin et al. 2010). Login to comment
267 The Gly180Arg variant lacks N-linked glycosylation and is recognized as a misfolded protein undergoing proteasomal degradation (Toyoda et al. 2009). Login to comment

PMID: 20103563 [PubMed] Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."

No. Sentence Comment

6947 It is noteworthy that dry earwax has been linked to a polymorphism (G180R) in ABCC11 (MRP8) that is more prevalent in persons of Chinese and Korean descent (Yoshiura et al., 2006; Kitano et al., 2008). Login to comment
6949 Subsequently, the G180R variant in ABCC11 was associated with not only dry earwax but also lower colostrum production in Japanese women (Miura et al., 2007). Login to comment
6944 It is noteworthy that dry earwax has been linked to a polymorphism (G180R) in ABCC11 (MRP8) that is more prevalent in persons of Chinese and Korean descent (Yoshiura et al., 2006; Kitano et al., 2008). Login to comment
6946 Subsequently, the G180R variant in ABCC11 was associated with not only dry earwax but also lower colostrum production in Japanese women (Miura et al., 2007). Login to comment

PMID: 22515603 [PubMed] Ishikawa T et al: "Recent advances in pharmacogenomics of ABC transporters involved in breast cancer therapy."

No. Sentence Comment

62 On the other hand, one nonsynonymous SNP, 538G>A (Gly180Arg), in the ABCC11 gene greatly affects the function and stability of the de novo synthesized variant protein. The SNP (Arg180) variant is recognized as a misfolded protein in the endoplasmic reticulum and readily undergoes proteasomal degradation. Login to comment
138 21 Lang T, Justenhoven C, Winter S et al. The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. Login to comment

PMID: 21740521 [PubMed] Chen ZS et al: "Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases."

No. Sentence Comment

242 MRP8 / ABCC11 and dry /wet ear wax Insight into a physiological role for MRP8 in cerumen (ear wax) secretion by the ceruminous apocrine glands was revealed by the identification of a single nucleotide polymorphism, 538G>A (Gly180Arg) in the MRP8 gene, which was associated with the production of wet rather than dry ear wax [184]. Login to comment
248 In membrane vesicles studies, the G180R mutant of MRP8 was unable to transport cAMP, again supporting the notion that a deficiency of MRP8 transport activity is responsible for the dry ear wax type. Login to comment

PMID: 21655989 [PubMed] Lang T et al: "The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans."

No. Sentence Comment

0 BRIEF REPORT The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans Thomas Lang • Christina Justenhoven • Stefan Winter • Christian Baisch • Ute Hamann • Volker Harth • Yon-Dschun Ko • Sylvia Rabstein • Anne Spickenheuer • Beate Pesch • Thomas Bru¨ning • Matthias Schwab • Hiltrud Brauch Received: 23 May 2011 / Accepted: 24 May 2011 / Published online: 8 June 2011 Ó Springer Science+Business Media, LLC. 2011 Abstract Genetic polymorphisms of human ABC-transporter genes have been suggested to modulate breast cancer risk in the general population. Login to comment
16 A loss-of-function and nonsynonymous SNP (c.538G[A; rs17822931) encoding the amino acid substitution G180R of ABCC11 recently has been shown to underlie the formation of cerumen, i.e. either wet or dry earwax. Login to comment

PMID: 21165769 [PubMed] Beesley J et al: "No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women."

No. Sentence Comment

9 A non-synonymous coding SNP (c.538G[A; rs17822931) encoding amino acid substitution Gly180Arg of ABCC11 has recently been shown to underlie the formation of either wet or dry cerumen (earwax) [5]. Login to comment

PMID: 20937735 [PubMed] Ohashi J et al: "The impact of natural selection on an ABCC11 SNP determining earwax type."

No. Sentence Comment

1 Associate editor: Anne Stone Abstract A nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G.A; Gly180Arg), in the ABCC11 gene determines human earwax type (i.e., wet or dry) and is one of most differentiated nonsynonymous SNPs between East Asian and African populations. Login to comment
9 Introduction The type of human earwax is determined by a nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G.A; Gly180Arg), in the ABCC11 gene (MIM *607040) (Yoshiura et al. 2006). Login to comment
18 Although it is difficult to statistically examine if natural selection has acted against rs17822931 rather than against rs6500380 owing to the strong LD between them (r2 5 0.91), rs6500380, which is located in intron 12 of LOMP2, seems to have less functional significance compared with rs17822931, which leads to the Gly180Arg amino acid change in ABCC11. Login to comment
185 The functional significance of rs17822931-G/A (G180R) has been recently described (Toyoda et al. 2009). Login to comment

PMID: 20718756 [PubMed] Uemura T et al: "ABCC11/MRP8 confers pemetrexed resistance in lung cancer."

No. Sentence Comment

110 It was recently reported that the ABCC11 gene has a nonsynonymous SNP 538G>A (rs17822931; Gly180Arg), which is important for determination of the type of human earwax that is expressed. Login to comment

PMID: 19625231 [PubMed] Inoue Y et al: "Correlation of axillary osmidrosis to a SNP in the ABCC11 gene determined by the Smart Amplification Process (SmartAmp) method."

No. Sentence Comment

2 Recently, a non-synonymous single nucleotide polymorphism (SNP) 538G> A (Gly180Arg) in the human adenosine triphosphate (ATP)-binding cassette (ABC) transporter ABCC11 gene was found to determine the type of earwax. Login to comment

PMID: 19710689 [PubMed] Martin A et al: "A functional ABCC11 allele is essential in the biochemical formation of human axillary odor."

No. Sentence Comment

16 The authors reported that a SNP, 538G-A, in ABCC11, leading to a G180R substitution in the corresponding protein, provokes a dry and white earwax phenotype, which is predominant among East Asians (80-95%) and rare among European and African populations (0-3%), which normally have a wet and yellow earwax phenotype. Login to comment

PMID: 19383836 [PubMed] Toyoda Y et al: "Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?"

No. Sentence Comment

1 Yu Toyoda,* Aki Sakurai,*,† Yasumasa Mitani,†,‡ Masahiro Nakashima,§ Koh-ichiro Yoshiura,ʈ Hiroshi Nakagawa,* Yasuo Sakai,¶ Ikuko Ota,†,# Alexander Lezhava,† Yoshihide Hayashizaki,† Norio Niikawa,ʈ, ** and Toshihisa Ishikawa*,†,1 *Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama, Japan; † Omics Science Center (OSC), RIKEN Yokohama Institute, Yokohama, Japan; ‡ K.K. DNAFORM, Yokohama, Japan; § Tissue and Histopathology Section, Atomic Bomb Disease Institute, and ʈ Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; ¶ Department of Plastic and Reconstructive Surgery, Fujita Health University, Toyoake, Japan; # Department of Gastroenterological Surgery, Yokohama City University Graduate School of Medicine, Yokohama, Japan; and **Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan ABSTRACT One single-nucleotide polymorphism (SNP), 538G>A (Gly180Arg), in the ABCC11 gene determines the type of earwax. Login to comment
16 Although the biochemical and physiological pathways that regulate the apocrine secretory process are not clearly known, our recent finding that the nonsynonymous SNP 538GϾA (rs17822931; Gly180Arg) in the ABCC11 gene determines the type of earwax has shed light on the novel function of this ABC transporter in apocrine glands (6). Login to comment
23 We have recently reported that one single-nucleotide polymorphism (SNP), 538GϾA (Gly180Arg), in the ABCC11 gene determines the type of earwax (6). Login to comment
31 First, to understand the molecular mechanism determining the earwax type, we investigated the effect of the SNP 538GϾA (Gly180Arg) on the protein expression and intracellular localization of ABCC11. Login to comment
33 In this article, we provide evidence that the SNP 538GϾA (Gly180Arg) variant of human ABCC11 lacking N-linked glycosylation is recognized as a misfolded protein in the endoplasmic reticulum (ER) and readily undergoes proteasomal degradation. Login to comment
72 Generation of ABCC11 variant forms The human ABCC11 WT or G180R cDNA was inserted into the pcDNA3.1/Hygro(-) vector (Invitrogen) between the restriction enzyme sites of XhoI/SalI and HindIII, respectively. Login to comment
73 The resulting expression construct [ABCC11 WT-pcDNA3.1/ Hygro(-)] was used as the template for site-directed mutagenesis to obtain ABCC11 variants, i.e., N838Q, N844Q, and N838Q/N844Q. Login to comment
77 To substitute Gly180 to Arg, Lys, His, Asp, Glu, AL, or Pro in the ABCC11 WT protein, the codon (GGG) encoding the Gly residue in TM1 was changed by site-directed mutagenesis, as described above. Login to comment
116 It is likely that the nonsynonymous SNP 538GϾA (Gly180Arg) greatly affects the cellular localization of the ABCC11 protein in secretory cells. Login to comment
126 B) Human ABCC11 WT or G180R cDNA was inserted into pcDNA3.1/Hygro(-) vector between restriction enzyme sites of XhoI/SalI and HindIII, respectively. Login to comment
161 Since Gly180 or Arg180 residue resides in TM1, this amino acid alteration (Gly180Arg) does not affect immunoreactivity. Login to comment
167 To examine our hypothesis, we substituted Gly180 to Arg, Lys, His, Asp, Glu, AL, and Pro in the ABCC11 WT protein. Login to comment
172 Both the rare mutation and G180R provide the dry type of earwax (6). Login to comment
173 Among the variants tested, only G180R and ⌬27 diminished N-linked glycosylation of ABCC11 (Fig. 6B). Login to comment
176 Clinical genotyping of the SNP 538G>A (Gly180Arg) in the ABCC11 gene by the SmartAmp method We tried to create a clinical method to genotype the SNP 538GϾA in the heman ABCC11 gene. Login to comment
178 Effect of SNP 538GϾA (Gly180Arg) on expression of human ABCC11 protein in Flp-In-293 cells. Login to comment
193 To determine the SNP 538GϾA (Gly180Arg) in the ABCC11 gene, we prepared one set of primers designated TP, FP, BP, OP, and CP (Fig. 7B). Login to comment
78 To substitute Gly180 to Arg, Lys, His, Asp, Glu, AL, or Pro in the ABCC11 WT protein, the codon (GGG) encoding the Gly residue in TM1 was changed by site-directed mutagenesis, as described above. Login to comment
117 It is likely that the nonsynonymous SNP 538Gb0e;A (Gly180Arg) greatly affects the cellular localization of the ABCC11 protein in secretory cells. Login to comment
127 B) Human ABCC11 WT or G180R cDNA was inserted into pcDNA3.1/Hygro(afa;) vector between restriction enzyme sites of XhoI/SalI and HindIII, respectively. Login to comment
162 Since Gly180 or Arg180 residue resides in TM1, this amino acid alteration (Gly180Arg) does not affect immunoreactivity. Login to comment
168 To examine our hypothesis, we substituted Gly180 to Arg, Lys, His, Asp, Glu, AL, and Pro in the ABCC11 WT protein. Login to comment
174 Among the variants tested, only G180R and èc;27 diminished N-linked glycosylation of ABCC11 (Fig. 6B). Login to comment
177 Clinical genotyping of the SNP 538G>A (Gly180Arg) in the ABCC11 gene by the SmartAmp method We tried to create a clinical method to genotype the SNP 538Gb0e;A in the heman ABCC11 gene. Login to comment
179 Effect of SNP 538Gb0e;A (Gly180Arg) on expression of human ABCC11 protein in Flp-In-293 cells. Login to comment
194 To determine the SNP 538Gb0e;A (Gly180Arg) in the ABCC11 gene, we prepared one set of primers designated TP, FP, BP, OP, and CP (Fig. 7B). Login to comment

PMID: 18668432 [PubMed] Toyoda Y et al: "MRP class of human ATP binding cassette (ABC) transporters: historical background and new research directions."

No. Sentence Comment

223 By using a positional cloning and linkage disequilibrium analysis of genetics of earwax type, Yoshiura et al. (2006) revealed that the non-synonymous SNP (538G>A, Gly180Arg) in the MRP8 gene is the MRP class of human ABC transporters determinant of human earwax type. Login to comment
230 Functional studies with MRP8-expressing LLC-PK1 cells demonstrated that cells expressing MRP8 with allele A (Gly180Arg) show a significantly lower level of cGMP transport, as compared with those expressing MRP8 wild-type with allele G (Yoshiura et al. 2006). Login to comment
233 The non-synonymous SNP of 538 G > A (Gly180Arg) in the MRP8 gene exhibits wide ethnic differences in the allele frequency (Figure 5A). Login to comment

PMID: 16444273 [PubMed] Yoshiura K et al: "A SNP in the ABCC11 gene is the determinant of human earwax type."

No. Sentence Comment

48 We performed an association study of the 118 samples using 37 SNPs within the five-gene interval and found that rs17822931 (538G-A, G180R) in ABCC11 exon 4, rs6500380 (IVS12+7508A-G) in LONPL intron 12 and ss49784070 (IVS14+320A-G) within an Alu-repetitive sequence in LONPL intron 14 showed the lowest P values (o2.0 Â 10-14; Fig. 1). Login to comment
54 Among the SNPs, only rs17822931 is nonsynonymous (G180R); rs6500380 does not create any splicing sites nor affect splicing factor binding motifs or known promoter sequences, and ss49784070 is located within the Alu-repetitive sequence, all supporting rs17822931 as an earwax determinant. Login to comment
88 The G180R substitution in rs17822931 (538G-A) is located at the first transmembrane domain of MRP8. Login to comment

PMID: 21187511 [PubMed] Ota I et al: "Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11."

No. Sentence Comment

2 It was recently found that earwax type is determined by a single nucleotide polymorphism (SNP), 538G>A (Gly180Arg), in ABCC11. Login to comment
15 Recent studies (4, 5) have provided evidence that the type of earwax is determined by one single nucleotide polymorphism (SNP), 538G>A (Gly180Arg), in the ATP-binding cassette (ABC) transporter ABCC11 located on human chromosome 16q12.1 (6). Login to comment
78 Among those SNPs, one SNP (rs17822931; 538G>A, Gly180Arg) is thought to be a clinically important polymorphism that may related with breast cancer risk. Login to comment

PMID: 21967058 [PubMed] Slot AJ et al: "Mammalian multidrug-resistance proteins (MRPs)."

No. Sentence Comment

276 The 538G>A polymorphism causes a nonߛconservative arginine substitution of Gly180 in the first TMH of MRP8 which appears to disrupt the glycosylation and stability of the protein [70]. Login to comment

PMID: 23316210 [PubMed] Ishikawa T et al: "Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion."

No. Sentence Comment

3 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. Login to comment
23 A non-synonymous SNP: 538G > A (Gly180Arg), an earwax determinant, is located in exon 4. Login to comment
32 Among those SNPs, one SNP (rs17822931; 538G > A, Gly180Arg) determines the human earwax type (Yoshiura et al., 2006). Login to comment
43 G180R and Ɗ27 are related to the formation of dry-type earwax. Login to comment
141 Therefore, we have most recently carried out a genotyping study of the SNP 538G > A (Gly180Arg) for a total of 543 Japanese women to examine the association between the frequency rate of breast cancer and the allelic frequency of the G allele (WT). Login to comment
204 Although the biochemical and physiological pathways that regulate the apocrine secretory process are not clearly known, our recent findings (Yoshiura et al., 2006; Toyoda et al., 2009; Inoue et al., 2010) that the SNP (538G > A, Gly180Arg) in the ABCC11 gene determines both earwax type and axillary osmidrosis have shed light on the novel function of thisABC transporter in apocrine glands. Login to comment

PMID: 23325016 [PubMed] Rodriguez S et al: "Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene."

No. Sentence Comment

14 In particular, a functional nonsynonymous single-nucleotide polymorphism (SNP; rs17822931), also known as 538 G-A or G180R, determines human earwax type (Yoshiura et al., 2006) and axillary osmidrosis (Nakano et al., 2009; Martin et al., 2010) and is associated with apocrine colostrum secretion from the mammary gland (Miura et al., 2007). Login to comment

PMID: 23641929 [PubMed] Honorat M et al: "Localization of putative binding sites for cyclic guanosine monophosphate and the anti-cancer drug 5-fluoro-2'-deoxyuridine-5'-monophosphate on ABCC11 in silico models."

No. Sentence Comment

100 Insight in the impact of Glycine 180 polymorphism Gly180, found to be inside pocket 2, is prone to G602A SNP (single nucleotide polymorphism) inducing the Gly180Arg mutation which was correlated to earwax type [31], and to colostrum and sweat secretion defaults [32,33]. Login to comment
104 The altered transport of Gly180Arg-mutant ABCC11 can be explained by the additional charge of arginine versus glycine. Login to comment

PMID: 24076068 [PubMed] Harker M et al: "Functional characterisation of a SNP in the ABCC11 allele - effects on axillary skin metabolism, odour generation and associated behaviours."

No. Sentence Comment

1 Introduction The gene ABCC11, encodes an ATP-driven efflux pump for amphipathic anions [1,2], that displays a single nucleotide polymorphism (SNP), 538G!A, leading to a G180R substitution in the corresponding protein. Login to comment
8 The extent to which the SNP (R180) variant of ABCC11 Journal of Dermatological Science 73 (2014) 23-30 A R T I C L E I N F O Article history: Received 18 March 2013 Received in revised form 1 August 2013 Accepted 30 August 2013 Keywords: Glutamine conjugate Malodour Odoriferous Skin microbiome Skin metabolomics Volatiles A B S T R A C T Background: A single nucleotide polymorphism (SNP), 538G!A, leading to a G180R substitution in the ABCC11 gene results in reduced concentrations of apocrine derived axillary odour precursors. Login to comment

PMID: 24572763 [PubMed] Prokop-Prigge KA et al: "Identification of volatile organic compounds in human cerumen."

No. Sentence Comment

21 changes amino acid 180 in the resultant protein`s polypeptide chain from glycine (G) to arginine (R; G180R), were found to have significantly less of the characteristic axillary odorants than either those who are heterozygous for this change or those who had the wild type gene [10,13]. Login to comment

PMID: 24576684 [PubMed] Stewart JC et al: "Tomatoes cause under-arm odour."

No. Sentence Comment

25 A, which is prominent in Asian populations, changes amino acid 180 from glycine to arginine and creates a misfolded protein that is degraded intracellularly [5,6]. Login to comment

PMID: 25320405 [PubMed] Matsumoto H et al: "ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion."

No. Sentence Comment

25 In summary, a SNP (538G>A, Gly180Arg) in the ABCC11 gene determines the type of earwax, and the GG homozygous and GA heterozygous genotypes correspond to wet earwax [35]. Login to comment

PMID: 25501636 [PubMed] Prokop-Prigge KA et al: "Ethnic/racial and genetic influences on cerumen odorant profiles."

No. Sentence Comment

15 It has been reported that a SNP in ABCC11, 538 C࢐T, leads to a G180R substitution in the corresponding K. Login to comment