Now I know I have been reading too much!!!
 

FASEB J. 2009 Apr 21. [Epub ahead of print]

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
*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 ||Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; paragraph signDepartment 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.
One single-nucleotide polymorphism (SNP), 538G>A (Gly180Arg), in the ABCC11 gene determines the type of earwax. The G/G and G/A genotypes correspond to the wet type of earwax, whereas A/A corresponds to the dry type. Wide ethnic differences exist in the frequencies of those alleles, reflecting global migratory waves of the ancestors of humankind. We herein provide the evidence that this genetic polymorphism has an effect on the N-linked glycosylation of ABCC11, intracellular sorting, and proteasomal degradation of the variant protein. Immunohistochemical studies with cerumen gland-containing tissue specimens revealed that the ABCC11 WT protein was localized in intracellular granules and large vacuoles, as well as at the luminal membrane of secretory cells in the cerumen gland, whereas granular or vacuolar localization was not detected for the SNP (Arg180) variant. This SNP variant lacking N-linked glycosylation is recognized as a misfolded protein in the endoplasmic reticulum and readily undergoes ubiquitination and proteasomal degradation, which determines the dry type of earwax as a mendelian trait with a recessive phenotype. For rapid genetic diagnosis of axillary osmidrosis and potential risk of breast cancer, we developed specific primers for the SmartAmp method that enabled us to clinically genotype the ABCC11 gene within 30 min.-Toyoda, Y., Sakurai, A., Mitani, Y., Nakashima, M., Yoshiura, K., Nakagawa, H., Sakai, Y., Ota, I., Lezhava, A., Hayashizaki, Y., Niikawa, N., Ishikawa, T. Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
PMID: 19383836

Lani, you are too cute! Thanks for doing what you do for us all.>>Believe51

PS: Get some sleep, huh? (Smiling)

I just sent an earwax sample out for FISH-e test.