Genetic elucidation of human hyperosmia to isovaleric acid

PLoS Biology

Volumn 5, Issue 11, 2007, Pages 2462-2468

  Menashe, Idan ^a,e   Abaffy, Tatjana ^b   Hasin, Yehudit ^a   Goshen, Sivan ^c   Yahalom, Vered ^d   Luetje, Charles W ^b   Lancet, Doron ^a  

^a WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c MEIR MEDICAL CENTER   (Israel)

^d MAGEN DAVID ADOM   (Israel)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOVALERIC ACID; VALERIC ACID DERIVATIVE;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE EXPRESSION SYSTEM; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC TRANSDUCTION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HOMOZYGOSITY; HUMAN; HYPEROSMIA; HYPOTHESIS; MALE; OLFACTORY MEMORY; OLFACTORY RECEPTOR; OLFACTORY SYSTEM; OOCYTE; PHENOTYPE; PSEUDOGENE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SMELLING; SMELLING DISORDER; XENOPUS; ADOLESCENT; ANIMAL; GENE EXPRESSION; GENETICS; MIDDLE AGED; ODOR; PERCEPTIVE THRESHOLD; STATISTICAL MODEL;

ADOLESCENT; ADULT; ANIMALS; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; LINEAR MODELS; MALE; MIDDLE AGED; PENTANOIC ACIDS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; RECEPTORS, ODORANT; SENSORY THRESHOLDS; SMELL; XENOPUS;

EID: 37249038498     PISSN: 15449173     EISSN: 15457885     Source Type: Journal    
DOI: 10.1371/journal.pbio.0050284     Document Type: Article

References (48)

1. Apter AJ, Gent JF, Frank ME (1999) Fluctuating olfactory sensitivity and distorted odor perception in allergic rhinitis. Arch Otolaryngol Head Neck Surg 125: 1005-1010.
2. Jafek BW, Gordon AS, Moran DT, Eller PM (1990) Congenital anosmia. Ear Nose Throat J 69: 331-337.
3. Leopold DA, Hornung DE, Schwob JE (1992) Congenital lack of olfactory ability. Ann Otol Rhinol Laryngol 101: 229-236.
4. Brown KS, MacLean CM, Robinette RR (1968) The distribution of the sensitivity to chemical odors in man. Hum Biol 40: 456-472.
5. Amoore JE, Venstrom D, Davis AR (1968) Measurments of specific anosmia. Percept Mot Skills 26: 143-164.
6. Cain WS, Gent JF (1991) Olfactory sensitivity: Reliability, generality, and association with aging. J Exp Psychol Hum Percept Perform 17: 382-391.
7. Stevens JC, Cain WS, Burke RJ (1988) Varibility of olfactory thresholds. Chem Senses 13: 643-653.
8. Wysocki CJ, Gilbert AN (1989) National Geographic Smell Survey. Effects of age are heterogenous. Ann N Y Acad Sci 561: 12-28.
9. Amoore JE (1967) Specific anosmia: A clue to the olfactory code. Nature 214: 1095-1098.
10. Amoore JE, Steinle S (1991) A graphic history of specific anosmia. Chem Senses 3: 331-351.
11. Whissell-Buechy D, Amoore JE (1973) Odour-blindness to musk: Simple recessive inheritance. Nature 242: 271-273.
12. Isseroff RG, Stoler M, Ophir D, Lancet D, Sirota P (1987) Olfactory sensitivity to androstenone in schizophrenic patients. Biol Psychiatry 22: 922-925.
13. Wysocki CJ, Beauchamp GK (1984) Ability to smell androstenone is genetically determined. Proc Natl Acad Sci U S A 81: 4899-4902.
14. Henkin RI (1990) Hyperosmia and depression following exposure to toxic vapors. JAMA 264: 2803.
15. Lison M, Blondheim SH, Melmed RN (1980) A polymorphism of the ability to smell urinary metabolites of asparagus. Br Med J 281: 1676-1678.
16. Gross-Isseroff R, Ophir D, Bartana A, Voet H, Lancet D (1992) Evidence for genetic determination in human twins of olfactory thresholds for a standard odorant. Neurosci Lett 141: 115-118.
17. Wysocki CJ, Whitney G, Tucker D (1977) Specific anosmia in the laboratory mouse. Behav Genet 7: 171-188.
18. Griff IC, Reed RR (1995) The genetic basis for specific anosmia to isovaleric acid in the mouse. Cell 83: 407-414.
19. Novikov SN, Troitskaya VT, Gladysheva OS, Churakov GA (2002) Specific anosmia to isovaleric acid in laboratory C57BL/6 mice: Recessive inheritance. Dokl Biol Sci 387: 505-507.
20. Sengupta P, Chou JH, Bargmann CI (1996) odr-10 encodes a seven transmembrane domain olfactory receptor required for responses to the odorant diacetyl. Cell 84: 899-909.
21. Buck L, Axel R (1991) A novel multigene family may encode odorant receptors: A molecular basis for odor recognition. Cell 65: 175-187.
22. Glusman G, Yanai I, Rubin I, Lancet D (2001) The complete human olfactory subgenome. Genome Res 11: 685-702.
23. Zozulya S, Echeverri F, Nguyen T (2001) The human olfactory receptor repertoire. Genome Biol 2: RESEARCH0018.
24. Menashe I, Man O, Lancet D, Gilad Y (2003) Different noses for different people. Nat Genet 34: 143-144.
25. Menashe I, Aloni R, Lancet D (2006) A probabilistic classifier for olfactory receptor pseudogenes. BMC Bioinformatics 7: 393.
26. Valle D (2004) Genetics, individuality, and medicine in the 21st century. Am J Hum Genet 74: 374-381.
27. Abaffy T, Matsunami H, Luetje CW (2006) Functional analysis of a mammalian odorant receptor subfamily. J Neurochem 97: 1506-1518.
28. Lancet D, Ben-Arie N, Cohen S, Gat U, Gross-Isseroff R, et al. (1993) Olfactory receptors: Transduction, diversity, human psychophysics and genome analysis. Ciba Found Symp 179: 131-141.
29. Malnic B, Hirono J, Sato T, Buck LB (1999) Combinatorial receptor codes for odors. Cell 96: 713-723.
30. Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, et al. (1998) Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet 7: 13-26.
31. Pennacchio LA, Rubin EM (2001) Genomic strategies to identify mammalian regulatory sequences. Nat Rev Genet 2: 100-109.
32. Laska M, Joshi D, Shepherd GM (2006) Olfactory sensitivity for aliphatic aldehydes in CD-1 mice. Behav Brain Res 167: 349-354.
33. Joshi D, Volkl M, Shepherd GM, Laska M (2006) Olfactory sensitivity for enantiomers and their racemic mixtures - A comparative study in CD-1 mice and spider monkeys. Chem Senses 31: 655-664.
34. Krautwurst D, Yau KW, Reed RR (1998) Identification of ligands for olfactory receptors by functional expression of a receptor library. Cell 97: 917-926.
35. Malnic B, Hirono J, Sato T, Buck L (1999) Combinatorial receptor codes for odors. Cell 96: 1-20.
36. Oka Y, Katada S, Omura M, Suwa M, Yoshihara Y, et al. (2006) Odorant receptor map in the mouse olfactory bulb: In vivo sensitivity and specificity of receptor-defined glomeruli. Neuron 52: 857-869.
37. Aloni R, Olender T, Lancet D (2006) Ancient genomic architecture for mammalian olfactory receptor clusters. Genome Biol 7: R88.
38. Zhang X, Firestein S (2002) The olfactory receptor gene superfamily of the mouse. Nat Neurosci 5: 124-133.
39. Ruan Y, Tecott L, Jiang MM, Jan LY, Jan YN (2001) Ethanol hypersensitivity and olfactory discrimination defect in mice lacking a homolog of Drosophila neuralized. Proc Natl Acad Sci U S A 98: 9907-9912.
40. Fadool DA, Tucker K, Perkins R, Fasciani G, Thompson RN, et al. (2004) Kv1.3 channel gene-targeted deletion produces "Super-Smeller Mice" with altered glomeruli, interacting scaffolding proteins, and biophysics. Neuron 41: 389-404.
41. Weischenfeldt J, Lykke-Andersen J, Porse B (2005) Messenger RNA surveillance: Neutralizing natural nonsense. Curr Biol 15: R559-R562.
42. Zibrowski EM, Robertson JM (2006) Olfactory sensitivity in medical laboratory workers occupationally exposed to organic solvent mixtures. Occup Med (Lond) 56: 51-54.
43. Sherman AH, Amoore JE, Weigel V (1979) The pyridine scale for clinical measurement of olfactory threshold: A quantitative reevaluation. Otolaryngol Head Neck Surg 87: 717-733.
44. Hummel T, Sekinger B, Wolf SR, Pauli E, Kobal G (1997) 'Sniffin' sticks': Olfactory performance assessed by the combined testing of odor identification, odor discrimination and olfactory threshold. Chem Senses 22: 39-52.
45. Bray MS, Boerwinkle E, Doris PA (2001) High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise. Hum Mutat 17: 296-304.
46. International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437: 1299-1320.
47. Serizawa S, Miyamichi K, Nakatani H, Suzuki M, Saito M, et al. (2003) Negative feedback regulation ensures the one receptor-one olfactory neuron rule in mouse. Science 302: 2088-2094.
48. Lomvardas S, Barnea G, Pisapia DJ, Mendelsohn M, Kirkland J, et al. (2006) Interchromosomal interactions and olfactory receptor choice. Cell 126: 403-413.