A Provisional Transcript Map of
the Spinal Muscular Atrophy
(SMA) Critical Region

Vandersteege, G; Draaijers, Tineke G.; Grootscholten, P. M.; Osinga, Jan; Anzevino, R.; Velona,; Dendunnen, Jt; Scheffer, Hans; Brahe, Cristina Beate; Vanommen, Gjb; Buys, Chcm

doi:10.1159/000472281

Cited by 27 publications

(13 citation statements)

References 24 publications

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“…We show that Smn is expressed prenatally as early as embryonic day 7 in the mouse. Smn differs from the human 1.7-kb transcript van der Steege et al 1995b) by 300 bp, which can be accounted for by the smaller 3Ј UTR in the mouse transcript. The 4.4-kb liverspecific transcript could be the same as the 4.5-kb transcript seen by van der Steege et al (1995b).…”

Section: Discussionmentioning

confidence: 96%

“…Smn differs from the human 1.7-kb transcript van der Steege et al 1995b) by 300 bp, which can be accounted for by the smaller 3Ј UTR in the mouse transcript. The 4.4-kb liverspecific transcript could be the same as the 4.5-kb transcript seen by van der Steege et al (1995b). RT-PCR indicated that Smn is not alternatively spliced in brain, kidney, liver, or spinal cord.…”

Section: Discussionmentioning

confidence: 96%

“…The SMN copy genes hybridize to a 1.7-kb transcript that is expressed ubiquitously van der Steege et al 1995b). An additional 4.5-kb transcript cross-hybridizing with the SMN cDNA has been reported (van der Steege et al 1995b).…”

mentioning

confidence: 99%

“…An additional 4.5-kb transcript cross-hybridizing with the SMN cDNA has been reported (van der Steege et al 1995b). Analysis of alternatively spliced transcripts predict that different SMN isoforms are produced by cenSMN and telSMN (Gennarelli et al 1995;Lefebvre et al 1995).…”

mentioning

confidence: 99%

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Cloning, Characterization, and Copy Number of the Murine Survival Motor Neuron Gene: Homolog of the Spinal Muscular Atrophy-Determining Gene

DiDonato¹,

Chen²,

Noya³

et al. 1997

Genome Res.

113

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Because of a 500-kb inverted duplication, there are two copies of the survival motor neuron (SMN) gene in humans, cenSMN and telSMN. Both genes produce identical ubiquitously expressed transcripts; however, only mutations in telSMN are responsible for spinal muscular atrophy (SMA), the second most common autosomal recessive childhood disease. We have cloned the murine homolog Smn and mapped the gene to Chromosome 13 within the conserved syntenic region of human chromosome 5q13. We show that the Smn transcript (1.4 kb) is expressed as early as embryonic day 7. In contrast to humans, we found no evidence of alternative splicing. The predicted amino acid sequence between mouse and human SMN is 82% identical, and a putative nuclear localization signal is conserved. FISH data indicate that the duplication of the SMA region observed in humans is not present in the mouse. We also found no evidence of multiple Smn genes using Southern blot hybridization and single-strand conformation analysis. Using these methods, we detected at least four copies of Naipexon 5 clustering distal to Smn. Finally, three biallelic markers were identified within the Smn coding region; two are silent polymorphisms, whereas the third changes a cysteine residue to a tyrosine residue in exon 7. Overall, our results indicate thatSmn is single copy within the mouse genome, which should facilitate gene disruption experiments to create an animal model of SMA.[The murine Smn cDNA sequence has been submitted to GenBank under accession no. U77714. The Mouse Genome Database accession no. for FISH mapping of Smn andNaip is MGD-INEX-31 and for the genetic mapping of theSmn exon 2b microsatellite marker is MGD-CREX-705.]

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 96%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Cloning, Characterization, and Copy Number of the Murine Survival Motor Neuron Gene: Homolog of the Spinal Muscular Atrophy-Determining Gene

DiDonato¹,

Chen²,

Noya³

et al. 1997

Genome Res.

113

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“…Screening of the cDNA libraries was performed by direct hybridisation with YAC DNA as we have described earlier. 9 …”

Section: Direct Screening Of Cdna Librariesmentioning

confidence: 99%

A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3

et al. 1999

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In the search for a tumour suppressor gene in the 3p21.3 region we isolated two genes, RBM5 and RBM6. Gene RBM5 maps to the region which is homozygously deleted in the small cell lung cancer cell line GLC20; RBM6 crosses the telomeric breakpoint of this deletion. Sequence comparison revealed that at the amino acid level both genes show 30% identity. They contain two zinc finger motifs, a bipartite nuclear signal and two RNA binding motifs, suggesting that the proteins for which RBM5 and RBM6 are coding have a DNA/RNA binding function and are located in the nucleus. Northern and Southern analysis did not reveal any abnormalities. By SSCP analysis of 16 lung cancer cell lines we found only in RBM5 a single presumably neutral mutation. By RT-PCR we demonstrated the existence of two alternative splice variants of RBM6, one including and one excluding exon 5, in both normal lung tissue and lung cancer cell lines. Exclusion of exon 5 results in a frameshift which would cause a truncated protein of 520 amino acids instead of 1123 amino acids. In normal lung tissue, the relative amount of the shorter transcript was much greater than that in the lung tumour cell lines, which raises the question whether some tumour suppressor function may be attributed to the derived shorter protein.

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Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

et al. 1996

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A Provisional Transcript Map of the Spinal Muscular Atrophy (SMA) Critical Region

Cited by 27 publications

References 24 publications

Cloning, Characterization, and Copy Number of the Murine Survival Motor Neuron Gene: Homolog of the Spinal Muscular Atrophy-Determining Gene

Cloning, Characterization, and Copy Number of the Murine Survival Motor Neuron Gene: Homolog of the Spinal Muscular Atrophy-Determining Gene

A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

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