Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

Journal of Clinical Investigation

Volumn 124, Issue 11, 2014, Pages 4773-4780

  Klar, Joakim ^a   Hisatsune, Chihiro ^b   Baig, Shahid M ^c   Tariq, Muhammad ^c   Johansson, Anna C V ^a   Rasool, Mahmood ^d   Malik, Naveed Altaf ^c   Ameur, Adam ^a   Sugiura, Kotomi ^b   Feuk, Lars ^a   Mikoshiba, Katsuhiko ^b   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^c NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^d KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR TYPE 2; UNCLASSIFIED DRUG; ACETYLCHOLINE; ITPR2 PROTEIN, HUMAN;

ANHIDROSIS; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENETIC CODE; GENOME ANALYSIS; HOMOZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MORPHOLOGY; MOUSE; NONHUMAN; PAKISTANI; PATHOPHYSIOLOGY; SKIN BIOPSY; SWEAT GLAND; SWEATING; ANIMAL; CALCIUM SIGNALING; CASE CONTROL STUDY; CONSANGUINITY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETICS; KNOCKOUT MOUSE; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THERMOREGULATION;

ACETYLCHOLINE; ANIMALS; BODY TEMPERATURE REGULATION; CALCIUM SIGNALING; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HUMANS; HYPOHIDROSIS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; LOD SCORE; MALE; MICE, KNOCKOUT; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEATING;

EID: 84908627883     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI70720     Document Type: Article

References (29)

1. Quinton PM. Sweating and its disorders. Annu Rev Med. 1983;34:429-452.
2. Sato K, Kang WH, Saga K, Sato KT. Biology of sweat glands and their disorders. II. Disorders of sweat gland function. J Am Acad Dermatol. 1989;20(5):713-726.
3. Dann EJ, Epstein Y, Sohar E. Familial generalized anhidrosis. Isr J Med Sci. 1990;26(8):451-453.
4. Armah DB, Al-Khenaizan S, Wakeel AA. Isolated Simple Anhidrosis: A rare cause of fever of unknown origin. Curr Pediatr Res. 2009;13(1-2):13.
5. Folk GE, Folk GE Jr, Semken HA, Semken HA Jr. The evolution of sweat glands. Int J Biometeorol. 1991;35(3):180-186.
6. Wilke K, Martin A, Terstegen L, Biel SS. A short history of sweat gland biology. Int J Cosmet Sci. 2007;29(3):169-179.
7. Zancanaro C, Merigo F, Crescimanno C, Orlandini S, Osculati A. Immunohistochemical evidence suggests intrinsic regulatory activity of human eccrine sweat glands. J Anat. 1999;194(pt 3):433-444.
8. Sato K, Sato F. Pharmacologic responsiveness of isolated single eccrine sweat glands. Am J Physiol. 1981;240(1):R44-R51.
9. Berridge MJ, Irvine RF. Inositol trisphosphate, a novel second messenger in cellular signal transduction. Nature. 1984;312(5992):315-321.
10. 2+ release channels. Physiol Rev. 2007;87(2):593-658.
11. 2+ channel: from discovery to new signaling concepts. J Neurochem. 2007;102(5):1426-1446.
12. Futatsugi A, et al. IP3 receptor types 2 and 3 mediate exocrine secretion underlying energy metabolism. Science. 2005;309(5744):2232-2234.
13. Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat. 2006;27(10):1041-1046.
14. Adzhubei IA, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249.
15. Sato K, Kang WH, Saga K, Sato KT. Biology of sweat glands and their disorders. I. Normal sweat gland function. J Am Acad Dermatol. 1989;20(4):537-563.
16. Sugawara H, Kurosaki M, Takata M, Kurosaki T. Genetic evidence for involvement of type 1, type 2, and type 3 inositol 1, 4, 5-trisphosphate receptors in signal transduction through the B-cell antigen receptor. EMBO J. 1997;16(11):3078-3088.
17. 2+ signals by differential expression of IP3 receptor subtypes. EMBO J. 1999;18(5):1303-1308.
18. Tafari AT, Thomas SA, Palmiter RD. Norepinephrine facilitates the development of the murine sweat response but is not essential. J Neurosci. 1997;17(11):4275-4281.
19. Mangos J. Transductal fluxes of Na, K, and water in the human eccrine sweat gland. Am J Physiol. 1973;224(5):1235-1240.
20. Yule DI, Betzenhauser MJ, Joseph SK. Linking structure to function: recent lessons from inositol 1, 4, 5-trisphosphate receptor mutagenesis. Cell Calcium. 2010;47(6):469-479.
21. Schug ZT, et al. Molecular characterization of the inositol 1, 4, 5-trisphosphate receptor pore-forming segment. J Biol Chem. 2008;283(5):2939-2948.
22. 2+ signaling. J Biol Chem. 2004;279(12):11967-11975.
23. Uchida K, et al. Gene knock-outs of inositol 1, 4, 5-trisphosphate receptors types 1 and 2 result in perturbation of cardiogenesis. PLoS One. 2010;5(9):e12500.
24. Matsumoto M, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1, 4, 5-trisphosphate receptor. Nature. 1996;379(6561):168-171.
25. Hisatsune C, et al. Abnormal taste perception in mice lacking the type 3 inositol 1, 4, 5-trisphosphate receptor. J Biol Chem. 2007;282(51):37225-37231.
26. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36(2):460-465.
27. Sato-Miyaoka M, Hisatsune C, Ebisui E, Ogawa N, Takahashi-Iwanaga H, Mikoshiba K. Regulation of hair shedding by the type 3 IP3 receptor. J Invest Dermatol. 2012;132(9):2137-2147.
28. Iwai M, et al. Molecular cloning of mouse type 2 and type 3 inositol 1, 4, 5-trisphosphate receptors and identification of a novel type 2 receptor splice variant. J Biol Chem. 2005;280(11):10305-10317.
29. Maeda N, Niinobe M, Nakahira K, Mikoshiba K. Purification and characterization of P400 protein, a glycoprotein characteristic of Purkinje cell, from mouse cerebellum. J Neurochem. 1988;51(6):1724-1730.