The transcription factor-like nuclear regulator (TFNR) contains, a novel 55-amino-acid motif repeated nine times and maps closely to SMN1

Genomics

Volumn 70, Issue 3, 2000, Pages 315-326

  Kelter, Arndt René ^a   Herchenbach, Julia ^a   Wirth, Brunhilde ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENE PRODUCT; PROTEIN SMN1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR C5; TRANSCRIPTION FACTOR LIKE NUCLEAR REGULATOR; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL NUCLEUS; CEREBELLUM; CONTROLLED STUDY; FETUS; GENE EXPRESSION; GENE MAPPING; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR EVOLUTION; MOLECULAR MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SEQUENCE HOMOLOGY; SPINAL MUSCULAR ATROPHY;

EID: 0034671119     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6396     Document Type: Article

References (39)

1. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
2. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
3. Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
4. A YAC contig of the region containing the spinal muscular atrophy gene: Identification of an unstable region
5. A multicopy transcription gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
6. Molecular approach to analyzing the human 5p deletion syndrome, Cri-du-chat
7. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP
8. Association between AgI-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
9. Comparative sequence analysis of the mouse and human Lgn1/SMA interval
10. A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q13
11. Comparing transcriptional initiation by RNA polymerases I and III
12. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures
13. The duplication of the SMA region (5q13) is a recent evolutionary event
14. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness
15. The role of the TATA-binding protein in the assembly and function of the multisubunit yeast RNA polymerase III transcription factor, TFIIIB
16. Cloning, expression, and function of TFC5, the gene encoding the B″ component of the Saccharomyces cerevisiae RNA polymerase III transcription factor TFIIIB
17. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
18. Congenital axonal neuropathy caused by deletions in the SMA region
19. Structure features in eukaryotic mRNAs that modulate the initiation of translation
20. Identification and characterization of the spinal muscular atrophy determining gene
21. Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13
22. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
23. Axonal neuropathy and predominance of type II myofibres in infantile spinal muscular atrophy
24. The gene for neuronal apoptosis inhibitor protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with type 1, 2 and 3 spinal muscular atrophy (SMA)
25. A suppressor of mutation in the class III transcription system encodes a component of yeast TFIIIB
26. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
27. High resolution physical map of the region surrounding the spinal muscular atrophy gene
28. A provisional transcription map of the spinal muscular atrophy (SMA) critical region
29. CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli
30. Human and mouse RAD17 genes: Identification, localization, genomic structure and histological expression pattern in normal testis and seminoma
31. Refinement of the spinal muscular atrophy locus by genetic and physical mapping
32. The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein
33. The HCF repeat is an unusual proteolytic cleavage signal
34. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
35. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs
36. De novo rearrangements found in 2% index patients with spinal muscular atrophy (SMA): Mutational mechanisms, parental origin, mutation rate and implications for prenatal diagnosis
37. Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype - Phenotype correlation, and implication for genetic counseling
38. Mapping a 5q11.2-q13.3 deletion chromosome
39. CNS- and peripheral nerve involvement - Hitherto unknown manifestations of severe congenital spinal muscular atrophy (SMA)