Establishment of a knock-in mouse model with the SLC26A4 c.919-2a>G mutation and characterization of its pathology

PLoS ONE

Volumn 6, Issue 7, 2011, Pages

  Lu, Ying Chang ^a,b   Wu, Chen Chi ^b,c   Shen, Wen Sheng ^b   Yang, Ting Hua ^b   Yeh, Te Huei ^b   Chen, Pei Jer ^c   Yu, I Shing ^a   Lin, Shu Wha ^a   Wong, Jau Min ^a   Chang, Qing ^d   Lin, Xi ^d   Hsu, Chuan Jen ^b,c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUDITORY SCREENING; CIRCLING BEHAVIOR; COCHLEA; COCHLEA DUCT; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HAIR CELL; HEAD TILTING; HEARING IMPAIRMENT; HEARING LOSS; HOMOZYGOSITY; MALE; MORPHOLOGY; MOUSE; NONHUMAN; OTOLITH; PATHOGENESIS; PHENOTYPE; PLASMID; PROTEIN LOCALIZATION; SACCULUS; SEMICIRCULAR CANAL; SEQUENCE HOMOLOGY; SLC26A4 GENE; STRIA VASCULARIS; UREA NITROGEN BLOOD LEVEL; VESTIBULE AQUEDUCT; ALLELE; ANIMAL; ANIMAL BEHAVIOR; AUDIOMETRY; CHROMOSOME SEGREGATION; ENDOLYMPHATIC SAC; GENE TARGETING; GENETICS; GENOTYPE; KIDNEY; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TRANSPORT; THYROID GLAND; ULTRASTRUCTURE;

MUS;

ANION TRANSPORT PROTEIN; MESSENGER RNA; SLC26A4 PROTEIN, MOUSE;

ALLELES; ANIMALS; ANION TRANSPORT PROTEINS; AUDIOMETRY; BASE SEQUENCE; BEHAVIOR, ANIMAL; CHROMOSOME SEGREGATION; ENDOLYMPHATIC SAC; GENE KNOCK-IN TECHNIQUES; GENOTYPE; KIDNEY; MICE; MODELS, ANIMAL; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN TRANSPORT; RNA, MESSENGER; STRIA VASCULARIS; THYROID GLAND;

EID: 79960650143     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022150     Document Type: Article

References (36)

1. Hilgert N, Smith RJ, Van Camp G, (2009) Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics? Mutat Res 681: 189-196.
2. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, et al. (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18: 215-217.
3. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17: 411-422.
4. Everett LA, Morsli H, Wu DK, Green ED, (1999) Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci U S A 96: 9727-9732.
5. Bidart JM, Mian C, Lazar V, Russo D, Filetti S, et al. (2000) Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. J Clin Endocrinol Metab 85: 2028-2033.
6. Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, et al. (2001) Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A 98: 4221-4226.
7. Royaux IE, Belyantseva IA, Wu T, Kachar B, Everett LA, et al. (2003) Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. J Assoc Res Otolaryngol 4: 394-404.
8. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, et al. (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10: 153-161.
9. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, et al. (2005) SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 42: 159-165.
10. Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, et al. (2007) Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 122: 451-457.
11. Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, et al. (2000) Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 9: 1709-1715.
12. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, et al. (2009) Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 30: 599-608.
13. Wu CC, Yeh TH, Chen PJ, Hsu CJ, (2005) Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 115: 1060-1064.
14. Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 72: 245-254.
15. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, et al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 11: 916-922.
16. Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, et al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 67: 160-165.
17. Wu CC, Chen PJ, Hsu CJ, (2005) Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. Audiol Neurootol 10: 234-242.
18. Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, et al. (2005) Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res 199: 22-30.
19. Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, et al. (2010) Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. J Biol Chem 285: 21724-21735.
20. King KA, Choi BY, Zalewski C, Madeo AC, Manichaikul A, et al. (2010) SLC26A4 Genotype, But Not Cochlear Radiologic Structure, Is Correlated With Hearing Loss in Ears With an Enlarged Vestibular Aqueduct. Laryngoscope 120: 384-389.
21. Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, et al. (2010) Two missense mutations in SLC26A4 gene: a molecular and functional study. Clin Genet 78: 74-80.
22. Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, et al. (2007) Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 292: F1345-1353.
23. Nakaya K, Harbidge DG, Wangemann P, Schultz BD, Green ED, et al. (2007) Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels. Am J Physiol Renal Physiol 292: F1314-1321.
24. Singh R, Wangemann P, (2008) Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. Am J Physiol Renal Physiol 294: F139-148.
25. Wangemann P, Kim HM, Billings S, Nakaya K, Li X, et al. (2009) Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression. Am J Physiol-Renal 297: F1435-F1447.
26. Johnsson LG, Hawkins JE Jr, (1972) Strial atrophy in clinical and experimental deafness. Laryngoscope 82: 1105-1125.
27. Spicer SS, Schulte BA, (2005) Pathologic changes of presbycusis begin in secondary processes and spread to primary processes of strial marginal cells. Hear Res 205: 225-240.
28. Suzuki H, Oshima A, Tsukamoto K, Abe S, Kumakawa K, et al. (2007) Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. Acta Otolaryngol 127: 1292-1297.
29. Sugiura M, Sato E, Nakashima T, Sugiura J, Furuhashi A, et al. (2005) Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. Eur Arch Otorhinolaryngol 262: 737-743.
30. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, et al. (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10: 153-161.
31. Zhou G, Gopen Q, Kenna MA, (2008) Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope 118: 2062-2066.
32. Wu CC, Chen YS, Chen PJ, Hsu CJ, (2005) Common clinical features of children with enlarged vestibular aqueduct and mondini dysplasia. Laryngoscope 115: 132-137.
33. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, et al. (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77: 945-957.
34. Lee EC, Yu D, Martinez de Velasco J, Tessarollo L, Swing DA, et al. (2001) A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73: 56-65.
35. Su KY, Chien WL, Fu WM, Yu IS, Huang HP, et al. (2007) Mice deficient in collapsin response mediator protein-1 exhibit impaired long-term potentiation and impaired spatial learning and memory. J Neurosci 27: 2513-2524.
36. Belyantseva IA, Adler HJ, Curi R, Frolenkov GI, Kachar B, (2000) Expression and localization of prestin and the sugar transporter GLUT-5 during development of electromotility in cochlear outer hair cells. J Neurosci 20: RC116.