DNA Sequence Analysis of SLC26A5, Encoding Prestin, in a Patient-Control Cohort: Identification of Fourteen Novel DNA Sequence Variations

PLoS ONE

Volumn 4, Issue 6, 2009, Pages

  Minor, Jacob S ^a,b   Tang, Hsiao Yuan ^a   Pereira, Fred A ^a   Alford, Raye Lynn ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANION TRANSPORT PROTEIN; PRIMER DNA; SLC26A5 PROTEIN, HUMAN;

ALLELE; ANIMAL; ARTICLE; CASE CONTROL STUDY; CHEMISTRY; COCHLEA; COHORT ANALYSIS; DNA SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HAIR CELL; HAPLOTYPE; HUMAN; METABOLISM; MOUSE; MUTATION; PHYSIOLOGY;

ALLELES; ANIMALS; ANION TRANSPORT PROTEINS; CASE-CONTROL STUDIES; COCHLEA; COHORT STUDIES; DNA PRIMERS; GENETIC VARIATION; HAIR CELLS, AUDITORY; HAPLOTYPES; HUMANS; MICE; MUTATION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 70449732471     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005762     Document Type: Article

References (27)

1. Conner BW, (2002) Sensory Transduction. In: Boron WF, Boulpaep EL, editors. Medical Physiology: A Cellular and Molecular Approach Philadelphia W. B. Saunders Co pp. 325-358.
2. Dallos P, (1992) The active cochlea. J Neurosci 12: 4575-4585.
3. Dallos P, Fakler B, (2002) Prestin, a new type of motor protein. Nat Rev Mol Cell Biol 3: 104-111.
4. Zheng J, Shen W, He DZ, Long KB, Madison LD, et al.(2000) Prestin is the motor protein of cochlear outer hair cells. Nature 405: 149-155.
5. Dallos P, Zheng J, Cheatham MA, (2006) Prestin and the cochlear amplifier. J Physiol 576: 37-42.
6. Schaechinger TJ, Oliver D, (2007) Nonmammalian orthologs of prestin (SLC26A5) are electrogenic divalent/chloride anion exchangers. Proc Natl Acad Sci U S A 104: 7693-7698.
7. Mount DB, Romero MF, (2004) The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch 447: 710-721.
8. Zheng J, Long KB, Matsuda KB, Madison LD, Ryan AD, et al.(2003) Genomic characterization and expression of mouse prestin, the motor protein of outer hair cells. Mamm Genome 14: 87-96.
9. Liberman MC, Gao J, He DZ, Wu X, Jia S, et al.(2002) Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature 419: 300-304.
10. Deak L, Zheng J, Orem A, Du GG, Aguinaga S, et al.(2005) Effects of cyclic nucleotides on the function of prestin. J Physiol 563: 483-496.
11. Navaratnam D, Bai JP, Samaranayake H, Santos-Sacchi J, (2005) N-terminal-mediated homomultimerization of prestin, the outer hair cell motor protein. Biophys J 89: 3345-3352.
12. Oliver D, He DZ, Klocker N, Ludwig J, Schulte U, et al.(2001) Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein. Science 292: 2340-2343.
13. Rajagopalan L, Patel N, Madabushi S, Goddard JA, Anjan V, et al.(2006) Essential helix interactions in the anion transporter domain of prestin revealed by evolutionary trace analysis. J Neurosci 26: 12727-12734.
14. Van Camp G, Smith RJH, (2008) Hereditary Hearing Loss Homepage. Available: http://dnalab-www.uia.ac.be/dnalab/hhh/. Accessed 2008 Nov. 14.
15. Liu XZ, Ouyang XM, Xia XJ, Zheng J, Pandya A, et al.(2003) Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet 12: 1155-1162.
16. Tang HY, Xia A, Oghalai JS, Pereira FA, Alford RL, (2005) High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. BMC Med Genet 6: 30.
17. Applied Bios ystems(2008) TaqMan SNP Genotyping Assays. Available: http://www.appliedbiosystems.com. Accessed 2008 Oct. 23.
18. Toth T, Deak L, Fazakas F, Zheng J, Muszbek L, et al.(2007) A new mutation in the human pres gene and its effect on prestin function. Int J Mol Med 20: 545-550.
19. Database of Single Nucleotide Polymorphisms [dbSNP](2008) Available: http://www.ncbi.nlm.nih.gov/SNP/. Accessed 2008 Sept. 26.
20. Ramensky V, Bork P, Sunyaev S, (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
21. Ng PC, Henikoff S, (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12: 436-446.
22. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
23. The International HapMap Project(2003) The International HapMap Project. Nature 426: 789-796.
24. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, et al.(1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281: 2211-2216.
25. Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, et al.(2006) DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A 140: 2401-2415.
26. den Dunnen JT, Antonarakis SE, (2001) Nomenclature for the description of human sequence variations. Hum Genet 109: 121-124.
27. Ogino S, Gulley ML, den Dunnen JT, Wilson RB, (2007) Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 9: 1-6.