Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2

American Journal of Human Genetics

Volumn 62, Issue 4, 1998, Pages 904-915

  Liang, Yong ^a,b   Wang, Aihui ^a,b   Probst, Frank J ^c   Arhya, I Nyoman ^e   Barber, Thomas D ^a,b   Chen, Ken Shiung ^f   Deshmukh, Dilip ^g   Dolan, David F ^d   Hinnant, John T ^b   Carter, Lynn E ^b   Jain, Pawan K ^a   Lalwani, Anil K ^h   Li, Xiaoyan C ^a   Lupski, James R ^f   Moeljopawiro, Sukarti ⁱ   Morell, Robert ^a   Negrini, Clelia ^a   Wilcox, Edward R ^a   Winata, Sunaryana ^e   Camper, Sally A ^c   Friedman, Thomas B ^a   more..

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^e UDAYANA UNIVERSITY   (Indonesia)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g Rotary Deaf School   (India)

^h Epstein Laboratories   (United States)

ⁱ GADJAH MADA UNIVERSITY   (Indonesia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 11; CHROMOSOME 17P; CONGENITAL DEAFNESS; DNA SEQUENCE; FEMALE; GENE LOCATION; HUMAN; INCIDENCE; INDONESIA; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; TANDEM REPEAT;

EID: 17344372052     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301786     Document Type: Article

References (47)

1. Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, et al (1995) The mouse snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat Genet 11:369-375
2. Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990) Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17. Ann Hum Genet 54:199-208
3. Bloch KD, Wolfram JR, Brown DM, Roberts JD, Zapol DG, Lepore JJ, Filippov G, et al (1995) Three members of the nitric oxide synthase LL gene family (NOS2A, NOS1B, NOS2C) colocalize to human chromosome 17. Genomics 27:526-530
4. Campbell HD, Fountain S, Young IG, Claudianops C, Hoheisel JD, Chen K-S, Lupski JR (1997) Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics 42:46-54
5. Chen H, Thalmann I, Adams JC, Avraham KB, Copeland NG, Jenkins NA, Beier DR, et al (1995a) cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs. Genomics 27: 389-398
6. Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Miklos GLG, Greenberg F, Shaffer LG, et al (1995b) The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet 56:175-182
7. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common gene deletion syndrome. Nat Genet 17:154-163
8. Chevillard C, Paslier DL, Passage E, Ougen P, Billault A, Boyer S, Mazan S, et al (1993) Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions: snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum Mol Genet 2:1235-1243
9. Cook SA, Davisson MT (1993) Re-mutation to shaker-2 (sh.2). Mouse Genome 91:312
10. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
11. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, et al (1996) Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52-57
12. Deol MS (1954) The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse. J Genet 52:562-588
13. _ (1956) The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond [Biol] 145:206-213
14. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal P, Millasseau P (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380: 152-154
15. Dobrovolskaia-Zavasdkaia N (1928) L'irradiation des testicules et l'hérédité chez la souris. Arch Biol 38:457-501
16. Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI (1998) The gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. Am J Med Genet 75: 104-108
17. Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, et al (1995) Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet 57:1342-1350
18. Estrada B (1997) Infectious causes of hearing loss beyond otitis media. Infect Med 14: 239-244
19. Falconer DS, Sobey WR (1953) The location of Trembler in linkage group VII. J Hered 44:159-160
20. Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, et al (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 9:86-91
21. Greco Tl, Takada S, Newhouse MM, McMahon JA, McMahou AP, Camper S (1996) Analysis of the vestigial tail mutation demonstrates that WNt-3a gene dosage regulates mouse axial development. Genes Dev 10:313-324
22. Greenberg F, Lewis RA, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, et al (1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254
23. Grimberg J, Nawoschik S, Belluscio L, McKee R, Eisenberg A (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acid Res 17:8390
24. Hasson T, Skowron J, Gilbert D, Avraham K, Perry W, Bement W, Anderson B, et al (1996) Mapping of unconventional myosins in mouse and human. Genomics 36:431-439
25. Hua X, Wu J, Goldstein JL, Brown MS, Hobbs HH (1995) Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics 25:667-673
26. + channel Kir 2.2 (KCNJ12) gene: gene structure, assignment to chromosome 17p11.1, and identification of a simple tandem repeat polymorphism. Genomics 39: 113-116
27. Kocher W (1960) Untersuchungen zur Genetik und Pathologie der Enkwicklung von 8 labyrinth-mutanten (deaf-waltzer-shaker-Mutanten der Maus (Mus musculus)). Z Vererbung 91:114-140
28. Lansing JS (1991) Priests and programmers: technologies of power in the engineered landscape of Bali. Princeton University Press, Princeton
29. Liang Y, Chen H, James H, Asher J, Chang C-C, Friedman TB (1997) Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter. Gene 184:163-167
30. Michie D (1955) Genetical studies with 'vestigial tail' mice. II. The position of vestigial in the seventh linkage group. J Genet 53:280-284
31. Miller S, Dykes D, Polesky H (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
32. Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, et al (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 6:263-266
33. Potocki L, Chen K-S, Lupski JR (1996) Identification of a highly conserved diphenol oxidase gene within the Smith-Magenis syndrome critical region of 17p11.2. Am J Hum Genet Suppl 59:A310
34. Probst FJ, Wang A, Friedman TB, Camper SA (1997) Genetic and physical map of the shaker-2 critical region, a mouse model for nonsyndromic deafness. Am J Hum Genet Suppl 61:A242
35. Saccone S, Caccio S, Kusuda J, Andreozzi L, Bernardi G (1996) Identification of the gene-richest bands in human chromosomes. Gene 174:85-94
36. Suter U, Welcher A, Ozcelik T, Snipes G, Kosaras B, Francke U, Billings-Gagliardi S, et al (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241-243
37. Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121-122
38. Takahashi N, Morishige K, Jahangir A, Yamada M, Findlay I, Koyama H, Kurachi Y (1994) Molecular cloning and functional expression of cDNA encoding a second class of inward rectifier potassium channels in the mouse brain. J Biol Chem 269:23274-23279
39. Townsend-Nicholson A, Baker E, Sutherland GR, Scofield PR (1995) Localization of the adenosine A2b receptor subtype gene (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybrids. Genomics 25: 605-607
40. Wakabayashi Y, Kikkawa Y, Matsumoto Y, Shinbo T, Kosugi S, Chou D, Furuya M, et al (1997) Genetic and physical delineation of the region of the mouse deafness mutation shaker-2. Biochem Biophys Res Commun 234:107-110
41. Watkins-Chow DE, Buckwalter MS, Newhouse MM, Lossie AC, Brinkmeier ML, Camper SA (1997) Genetic mapping of 21 genes on mouse chromosome 11 reveals disruptions in linkage conservation with human chromosome 5. Genomics 40:114-122
42. Webb GC, Baker RT, Fagan K, Board PG (1990) Localizations of the human UbB polyubiquitin gene to chromosome band 17p11.2-17p12. Am J Hum Genet 46:308-315
43. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
44. Wilgenbus KK, Seranski P, Brown A, Luechs B, Mincheva A, Lichter P, Poustka A (1997) Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs. Genomics 42: 1-10
45. Winata S, Arhya IN, Moeljopawiro S, Hinnant JT, Liang Y, Friedman TB, Asher JH (1995) Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. J Med Genet 32:336-343
46. Yamasoba T, Dolan DF (1997) Chronic strychnine administration into the cochlea potentiates permanent threshold shift following noise exposure. Hearing Res 112(1-2): 13-20
47. Zhao Z, Lee C-C, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, et al (1995) The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589-597