Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP

Genomics

Volumn 48, Issue 1, 1998, Pages 121-127

  Chen, Qianfa ^a   Baird, Stephen D ^a   Mahadevan, Mani ^c   Besner Johnston, Anne ^a   Farahani, Reza ^a,b   Xuan, Jianying ^a   Kang, Xiaolin ^a   Lefebvre, Charles ^a   Ikeda, Joh E ^b,d   Korneluk, Robert G ^a,b   MacKenzie, Alex E ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^d TOKAI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 5P; DNA POLYMORPHISM; DNA SEQUENCE; GENETIC DISORDER; HUMAN; MUSCLE WEAKNESS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0031937537     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5141     Document Type: Article

References (43)

1. 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.
2. Bairoch A., Bucher P. PROSITE: recent developments. Nucleic Acids Res. 22:1994;3583-3589.
3. Bonfield J. K., Smith K. F., Staden R. A new DNA sequence assembly program. Nucleic Acids Res. 23:1995;4992-4999.
4. Brzustowicz L. M., Lehner T., Castilla L. H., Penchaszadeh G. K., Wilhelmsen K. C., Daniels R., Davies K. E., Leppert M., Ziter F., Wood D., Dubowitz V., Zerres K., Hausmanowa-Petrusewicz I., Ott J., Munsat T. L., Gilliam T. C. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 344:1990;540-541.
5. Burghes A. H. M. When is a deletion not a deletion? When it's converted. Am. J. Hum. Genet. 61:1997;9-15.
6. Burglen L., Seroz T., Miniou P., Lefebvre S., Burlet P., Munnich A., Pequingnot E. V., Egly J. M., Melki J. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet. 60:1997;72-79.
7. Burlet P., Burglen L., Clermont O., Lefebvre S., Viollet L., Munnich A., Melki J. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann. J. Med. Genet. 33:1996;281-283.
8. Bussaglia E., Clermont O., Tizzano E., Lefebvre S., Burglen L., Cruaud C., Urtizberea J. A., Colomer J., Munnich A., Baiget M., Melki J. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet. 11:1995;335-337.
9. Campbell L., Potter A., Ignatius J., Dubowitz V., Davies K. Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype. Am. J. Hum. Genet. 61:1997;40-50.
10. Carter T. A., Bonnemann C. G., Wang C. H., Obici S., Parano E., Bonaldo M. D., Ross B. M., Penchaszadeh G. K., MacKenzie A., Soares M. B., Kunkel L. M., Gilliam T. C. A multicopy transcription-repair gene, BTF2P44, maps to the SMA region and demonstrates SMA associated deletions. Hum. Mol. Genet. 6:1997;229-236.
11. Chen Q., Neville C., MacKenzie A., Korneluk R. G. Automated sequencing requiring no DNA template purification. BioTechniques. 21:1996;453-457.
12. Coover D. D., Le T. T., McAndrew P. E., Strasswimmer J., Crawford T. O., Mendell J. M., Coulson S. E., Androphy E. J., Prior T. W., Burghes A. H. M. The survival of motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6:1997;1205-1214.
13. DiDonato C. J., Morgan K., Carpten J. D., Fuerst P., Ingraham S. E., Prescott G., McPherson J. D., Wirth B., Zerres K., Hurko O. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet. 55:1994;1218-1229.
14. Dubowitz V. Muscle Disorders in Childhood. 1978;Saunders, East Sussex.
15. 1991, Program Manual for the GCG Package, 575 Science Drive, Madison, WI, 53711.
16. Gilliam T. C., Brzustowicz L. M., Castillo L. H., Lehner T., Penhaszadeh G. K., Daniels R. J., Byth B. C., Knowles J., Hislop J. E., Shapira Y., Dubowitz V., Munsat T. L., Ott J., Davies K. E. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 345:1990;823-825.
17. Hahnen E., Schonling J., Rudnil-Schoneborn S., Zerres L., Wirth B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 59:1996;1057-1065.
18. Ioannou P. A., Amemiya C. T., Garnes J., Kroisel P. M., Shizuya H., Chen C., Batzer M. D., de Jong P. J. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6:1994;84-89.
19. Jones D. T., Taylor W. R., Thornton J. M. A model recognition approach to the prediction of all-helical membrane protein structure and topology. Biochemistry. 33:1994;3038-3049.
20. Kleyn P. W., Wang C. H., Lien L. L., Vitale E., Pan J., Ross B. M., Grunn A., Palmer D. A., Warburton D., Brzustowicz L. M. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc. Natl. Acad. Sci. USA. 90:1993;6801-6805.
21. Korenberg J. R., Rykowski M. C. Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands. Cell. 53:1988;391-400.
22. Lefebvre S., Berglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., Le Paslier D., Frezal J., Cohen D., Weissenbach J., Munnich A., Melki J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80:1995;155-165.
23. Lefebvre S., Burlet P., Liu Q., Bertrandy S., Clermont O., Munnich A., Dreyfuss G., Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet. 16:1997;265-269.
24. Liston P., Roy N., Tamai K., Lefebvre C., Baird S., Cherton-Horvat G., Farahani R., McLean M., Ikeda J-E., MacKenzie A. E., Korneluk R. G. Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature. 379:1996;349-353.
25. TC. Am. J. Hum. Genet. 60:1997;1411-1422.
26. McLean M. D., Roy N., MacKenzie A. E., Salih M., Burghes A. H. M., Simard L., Korneluk R. G., Ikeda J-E., Surh L. Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type I spinal muscular atrophy. Hum. Mol. Genet. 3:1994;1951-1956.
27. Melki J., Abdelhak S., Sheth P., Bachelot M. F., Burlet P., Marcadet A., Aicardi J., Barois A., Cariere J. P., Fardeau M., Fontan D., Ponsot G., Billsette T., Angelini C., Barbosa C., Ferriere G., Lanzi G., Ottolini A., Babron M. C., Cohen D., Hanauer A., Colerget-Darpox F., Lathrop M., Munnich A., Frezal J. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 344:1990;767-768.
28. Melki J., Lefebvre S., Burglen L., Burlet P., Clermont O., Millasseau P., Reboullet S., Benichou B., Zeviani M., Le Paslier D. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 264:1994;1474-1477.
29. Parsons D. W., McAndrew P. E., Monani U. R., Mendell J. R., Burghes A. H. M., Prior T. W. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype - Further evidence for SMN as the primary SMA-determining gene. Hum. Mol. Genet. 5:1996;1727-1732.
30. Pettmann, B. Cisterni, C. Villa, P. S. 1996, SMN anti sense oligonucleotides reduce motoneuron survival in vitro, In, Association France Myopathy Colloque sur les Maladies Neuromusculaires, 263.
31. Prestidge D. S. Prediction of Pol II promoter sequences using transcription factor binding sites. J. Mol. Biol. 249:1995;923-932.
32. Rajcan-Separovic E., Mahadevan M. S., Lefebvre C., Besner-Johnston A., Ikeda J-E., Korneluk R. G., MacKenzie A. E. FISH detection of chromosomal polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13. Cytogenet. Cell Genet. 75:1996;243-247.
33. Roy N., Mahadevan M. S., McLean M., Shutler G., Yaraghi Z., Farahani R., Baird S., Besner-Johnston A., Lefebvre C., Kang X., Salih M., Aubry H., Tamai K., Guan X. P., Ioannou P., Crawford T. O., de Jong P., Surh L., Ikeda J-E., Korneluk R. G., MacKenzie A. E. The gene for NAIP, a novel protein with homology to baculoviral inhibitor of apoptosis, is partially deleted in individuals with spinal muscular atrophy. Cell. 80:1995;167-178.
34. Roy N., McLean M. D., Besner-Johnston A., Lefebvre C., Salih M., Yaraghi Z., Ikeda J-E., Korneluk R. G., MacKenzie A. E. Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays. Genomics. 26:1995;451-460.
35. http://www.ncbi.nlm.nih.gov/Sequin/index.html , November 28, 1996.
36. Shah M. B., Guan X., Eistein J. R., Matis S., Xu Y., Mural R. J., Uberbacher E. C. User's guide to GRAIL and GENQUEST (sequence analysis, gene assembly and sequence comparison systems) E-mail servers and XGRAIL (Version 1.2) and XGENQUEST (Version 1.1) client-server systems. 1994.
37. Strathmann M., Hamilton B. A., Mayeda C. A., Simon M. I., Meyerowitz E. M., Palazzolo J. Transposon-facilitated DNA sequencing. Proc. Natl. Acad. Sci. USA. 88:1991;1247-1250.
38. van der Steege G., Grootscholten P. M., Cobben J. M., Zappata S., Scheffer H., den Dunnen J. T., van Ommen G-J. B., Brahe C., Buys C. H. C. M. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am. J. Hum. Genet. 59:1996;834-838.
39. Velasco E., Valero C., Nalero A., Moreno F., Hernandez-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum. Mol. Genet. 5:1996;257-263.
40. Wirth E., Hahnen E., Morgan K., DiDonato C. J., Dadze A., Rudnik-Schoneborn S., Simard L. R., Zerres K., Burghes A. H. M. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4:1995;1273-1284.
41. Xu D. G., Korneluk R. G., Tamai K., Ikeda M., Ikeda J-E., Wigle N., Hakim A. M., MacKenzie A. E., Robertson G. S. Distribution of NAIP-like immunoreactivity in the rat central nervous system. J. Comp. Neurol. 381:1997;1-13.
42. Xu D. G., Crocker S. J., Doucet J-P., St-Jean M., Tamai K., Hakim A. M., Ikeda J-E., Korneluk R. G., MacKenzie A. E., Robertson G. S. Elevation of neuronal expression of NAIP reduces ischemic damage in the hippocampus. Nature Med. 1997.
43. Yaraghi Z., McLean M. D., Roy N., Surh L., Korneluk R. G., Ikeda J-E., MacKenzie A. E. A recombination event occurring within the two complex 5q13.1 simple tandem repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy. Hum. Genet. 96:1995;330-334.