Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosome region 13q11

Genomics

Volumn 62, Issue 2, 1999, Pages 156-164

  Engert, James C ^a   Doré, Carole ^a   Mercier, Jocelyne ^c   Ge, Bing ^a   Bétard, Christine ^a   Rioux, John D ^d   Owen, Carolyn ^a   Bérubé, Pierre ^a   Devon, Keri ^d   Birren, Bruce ^d   Melançon, Serge B ^c   Morgan, Kenneth ^a,b   Hudson, Thomas J ^a,b,d   Richter, Andrea ^c  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHARLEVOIX SAGUENAY ATAXIA; CHROMOSOME 13Q; GENE LOCATION; GENE LOCUS; GENE MAPPING; HAPLOTYPE; HEREDITARY ATAXIA; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; YEAST ARTIFICIAL CHROMOSOME;

EID: 0033387852     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.6003     Document Type: Article

References (36)

1. Albertsen H. M., Abderrahim H., Cann H. M., Dausset J., Le Paslier D., Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA. 87:1990;4256-4260.
2. Altschul S. F., Gish W., Miller W., Myers E. W., Lipman D. J. Basic local alignment search tool. J. Mol. Biol. 215:1990;403-410.
3. Bellanne-Chantelot C., Lacroix B., Ougen P., Billault A., Beaufils S., Bertrand S., Georges I., Glibert F., Gros I., Lucotte G. Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell. 70:1992;1059-1068.
4. Birren B. W., Mancino V., Shizuya H. Bacterial artificial chromosomes. Birren B., Green E. D., Klaphoz S., Myers R. M., Riethman H., Roskams J. Genome Analysis: A Laboratory Manual. 1999;241-295 Cold Spring Harbor Laboratory Press, Plainview.
5. Bouchard J-P. Recessive spastic ataxia of Charlevoix-Saguenay. de Jong J. M. B. V. Handbook of Clinical Neurology 16: Hereditary Neuropathies and Spinocerebellar Degenerations. 1991;451-459 Elsevier, Amsterdam.
6. Bouchard J. P., Barbeau A., Bouchard R., Bouchard R. W. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can. J. Neurol. 5:1978;61-69.
7. Bouchard J. P., Richter A., Mathieu J., Brunet D., Hudson T. J., Morgan K., Melançon S. B. Neuromuscular Disorders. 8:1998;474-479.
8. Boysen C., Simon M. I., Hood L. Analysis of the 1.1-Mb human alpha/delta T-cell receptor locus with bacterial artificial chromosome clones. Genome Res. 7:1997;330-338.
9. Cayanis E., Russo J. J., Kalachikov S., Ye X., Park S. H., Sunjevaric I., Bonaldo M. F., Lawton L., Venkatraj V. S., Schon E. High-resolution YAC-cosmid-STS map of human chromosome 13. Genomics. 47:1998;26-43.
10. Chaib H., Lina-Granade G., Guilford P., Plauchu H., Levilliers J., Morgon A., Petit C. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Mol. Genet. 3:1994;2219-2222.
11. DeAngelis M. M., Wang D. G., Hawkins T. L. Solid-phase reversible immobilization for the isolation of PCR products. Nucleic Acids Res. 23:1995;4742-4743.
12. De Braekeleer M. Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum. Hered. 41:1991;141-146.
13. De Braekeleer M., Giasson F., Mathieu J., Roy M., Bouchard J. P., Morgan K. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet. Epidemiol. 10:1993;17-25.
14. Deloukas P., Schuler G. D., Gyapay G., Beasley E. M., Soderlund C., Rodriguez-Tome P., Hui L., Matise T. C., McKusick K. B., Beckmann J. S. A physical map of 30,000 human genes. Science. 282:1998;744-746.
15. Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., Weil D., Petit C. Connexin 26 gene linked to a dominant deafness. Nature. 393:1998;319-320.
16. Gauvreau D., Guérien M., Hamel M. De Charlevoix au Saguenay: Mesure et caractéristiques du mouvement migratoire avant 1911. Bouchard G., De Braekeleer M. Histoire d'un génome: Population et génétique dans l'est du Québec. 1991;145-162 Presses de l'Université du Québec, Sillery.
17. Grifa A., Wagner C. A., D'Ambrosio L., Melchionda S., Bernardi F., Lopez-Bigas N., Rabionet R., Arbones M., Monica M. D., Estivill X., Zelante L., Lang F., Gasparini P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genetics. 23:1999;16-18.
18. Guilford P., Dode C., Crozet F., Blanchard S., Chaib H., Levilliers J., Levi-Acobas F., Weil D., Weissenbach J., Cohen D. A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). Genomics. 29:1995;163-169.
19. Haefliger J. A., Bruzzone R., Jenkins N. A., Gilbert D. J., Copeland N. G., Paul D. L. Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping. J. Biol. Chem. 267:1992;2057-2064.
20. Hudson T. J., . Stein L., Gerety S., Ma J, . Castle A., Silva J., Slonim D, Baptista R., Kruglyak L., Xu S-H. An STS-based map of the human genome. Science. 270:1995;1945-1954.
21. Ioannou P. A., Amemiya C. T., Garnes J., Kroisel P. M., Shizuya H., Chen C., Batzer M. A., de Jong P. J. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat. Genet. 6:1994;84-89.
22. Jetté R., Gauvreau D., Guérien M. Aux origines d'une région: Le peuplement fondateur de Charlevoix avant 1850. Bouchard G., De Braekeleer M. Histoire d'un génome: Population et génétique dans l'est du Québec. 1991;75-107 Presses de l'Université du Québec, Sillery.
23. Kelsell D. P., Dunlop J., Stevens H. P., Lench N. J., Liang J. N., Parry G., Mueller R. F., Leigh I. M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 387:1997;80-83.
24. Kibar Z., DerKaloustian V. M., Brais B., Hani V., Fraser F. C., Rouleau G. A. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum. Mol. Genet. 5:1996;543-547.
25. Kibar Z., Lafreniere R. G., Chakravarti A., Wang J. C., Chevrette M., DerKaloustian V. M., Rouleau G. A. A radiation hybrid map of 48 loci including the Clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. Genomics. 56:1999;127-130.
26. Kim U-J., Birren B. W., Slepak T., Mancino V., Boysen C., Kang H. L., Simon M. I., Shizuya H. Construction and characterization of a human bacterial artificial chromosome library. Genomics. 34:1996;213-218.
27. Mackay D., Ionides A., Berry V., Moore A., Bhattacharya S., Shiels A. A new locus for dominant "zonular pulverulent" cataract on chromosome 13. Am. J. Hum. Genet. 60:1997;1474-1478.
28. Mackay D., Ionides A., Kibar Z., Rouleau G., Berry V., Moore A., Shiels A., Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am. J. Hum. Genet. 64:1999;1357-1364.
29. McNally E. M., Passos-Bueno M. R., Bonnemann C. G., Vainzof M., de Sa Moreira E., Lidov H. G. W., Ben Othmane K., Denton P. H., Vance J. M., Zatz M., Kunkel L. M. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am. J. Hum. Genet. 59:1996;1040-1047.
30. Mignon C., Fromaget C., Mattei M. G., Gros D., Yamasaki H., Mesnil M. Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11→q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet. Cell. Genet. 72:1996;185-186.
31. Noguchi S., McNally E. M., Ben Othmane K., Hagiwara Y., Mi-zuno Y., Yoshida M., Yamamoto H., Bonnemann C. G., Gussoni E., Denton P. H. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 270:1995;819-822.
32. Piccolo F., Jeanpierre M., Leturcq F., Dode C., Azibi K., Toutain A., Merlini L., Jarre L., Navarro C., Krishnamoorthy R. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum. Mol. Genet. 5:1996;2019-2222.
33. Richter A., Rioux J. D., Bourchard J.-P., Mercier J., Mathieu J, Ge B., Poirier J., Julien D., Gyapay G., Weissenbach J. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13q11. Am. J. Hum. Genet. 64:1999;768-775.
34. Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K., White R. E., Rodriguez-Tome P., Aggarwal A., Bajorek E. A gene map of the human genome. Science. 274:1996;540-546.
35. Wu C., Zhu S., Simpson S., de Jong P. J. DOP-vector PCR: A method for rapid isolation and sequencing of insert termini from PAC clones. Nucleic Acids Res. 24:1996;2614-2616.
36. +-ATPase α- and β-subunit genes. Genomics. 2:1988;128-138.