Sequence analysis of COL1A1 and COL1A2 genes in clinical otosclerosis: No evidence for mutations in the coding regions of the genes

Oto-Rhino-Laryngologia Nova

Volumn 11, Issue 6, 2001, Pages 267-270

  McKenna, Michael J ^a,b   Kristiansen, Arthur G ^b   Körkkö, Jarmo ^c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^c TULANE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

COL1A1; COL1A2; Otosclerosis; Sequence analysis

Indexed keywords

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FEMALE; GEL ELECTROPHORESIS; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SIMILARITY; HISTOPATHOLOGY; HUMAN; INTRON; MALE; NULL ALLELE; OSTEOGENESIS IMPERFECTA; OTOSCLEROSIS; PROMOTER REGION; RNA SPLICING; SEQUENCE ANALYSIS;

EID: 0035787769     PISSN: 10148221     EISSN: None     Source Type: Journal    
DOI: 10.1159/000068302     Document Type: Article

References (29)

1. Schaap T, Gapany-Gapanaviscius B: The genetics of otosclerosis. I. Distorted sex ratio. Am J Hum Genet 1978;30:59-64.
2. Svatko LG: Pathogenetic aspects of otosclerosis (in Russian). Vestn Otorinolaringol 1995;24-27.
3. Sabitha R, Ramalingam R, Ramalingam KK, Sivakumaran TA, Ramesh A: Genetics of otosclerosis. J Laryngol Otol 1997;111:109-112.
4. Shin YJ, Calvas P, Deguine O, Charlet JP, Cognard C, Fraysse B: Correlations between computed tomography findings and family history in otosclerotic patients. Otol Neurotol 2001;22:461-464.
5. Causse JR, Causse JB: Otospongiosis as a genetic disease: Early detection, medical management, and prevention. Am J Otol 1984;5:211-223.
6. Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ: Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mol Genet 1998;7:285-290.
7. Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G: A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet 2001;68:495-500.
8. McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL: Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 1998;19:604-610.
9. Willing MC, Deschenes SP, Slayton RL, Roberts EJ: Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 1996;59:799-809.
10. McKenna MJ, Kristiansen AG, Tropitzsch AS: Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. Ann Otol Rhinol Laryngol 2002;111:184-189.
11. Nager GT: Osteogenesis imperfecta of the temporal bone and its relation to otosclerosis. Ann Otol Rhinol Laryngol 1988;97:585-593.
12. Ziyeh S, Berger R, Reisner K: MRI-visible pericochlear lesions in osteogenesis imperfecta type I. Eur Radiol 2000;10:1675-1677.
13. Fowler EP: The incidence (and degrees) of blue sclerae in otosclerosis and other ear disorders. Laryngoscope 1949;59:406.
14. Garretsen TJ, Cremers CW: Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. Ann NY Acad Sci 1991;630:240-248.
15. Sykes B, Ogilvie D, Wordsworth P, Wallis G, Mathew C, Beighton P, Nicholls A, Pope FM, Thompson E, Tsipouras P, Schwartz R, Jensson O, Arnason A, Børresen A-L, Heiberg A, Frey D, Steinmann B: Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet 1990;46:293-307.
16. Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH: Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet 2000;106:19-28.
17. Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ: Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations. Am J Hum Genet 1998;62:98-110.
18. Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993;90:10325-10329.
19. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L: Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 1998;94:1681-1685.
20. Werle E, Schneider C, Renner M, Volker M, Fiehn W: Convenient single-step, one tube purification of PCR products for direct sequencing. Nucleic Acids Res 1994;22:4354-4355.
21. Stover ML, Primorac D, Liu SC, McKistry MB, Rowe DW: Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. J Clin Invest 1993;92:1994-2002.
22. Johnson C, Primorac D, McKinstry M, McNeil J, Rowe D, Lawrence JB: Tracking COL1A1 RNA in osteogenesis imperfecta: Splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. J Cell Biol 2000;150:417-432.
23. Krempen K, Grothkopp D, Hall K, Bache A, Gillan A, Rippe RA, Brenner DA, Breindl M: Far upstream regulatory elements enhance position-independent and uterus-specific expression of the murine alpha1(I) collagen promoter in transgenic mice. Gene Expr 1999;8:151-163.
24. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996;14:203-205.
25. Langdahl BL, Ralston SH, Grant SF, Eriksen EF: An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 1998;13:1384-1389.
26. Alvarez L, Oriola J, Jo J, Ferro T, Pons F, Peris P, Guanabens N, Duran M, Monegal A, Martinez de Osaba MJ, Rivera-Fillat F, Ballesta AM: Collagen type I alpha1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis: Improved detection of Sp1 binding site polymorphism in the collagen type I gene. Clin Chem 1999;45:904-906.
27. McGuigan FE, Armbrecht G, Smith R, Felsenberg D, Reid DM, Ralston SH: Prediction of osteoporotic fractures by bone densitometry and COL1A1 genotyping: A prospective, population-based study in men and women. Osteoporos Int 2001;12:91-96.
28. Roux S: The genetics of osteoporosis. Joint Bone Spine 2001;68:482-486.
29. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, Aspden RM, Ralston SH: A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001;107:899-907.