Novel transcribed sequences represented in the complex genomic region 5q13

Morrison, Karen; Anderson, Susan M.; Borrett, James P.; Theodosiou, Aspasia; Rodrigues, Nanda; Blake, Derek J.; Nesbit, Andrew; Davies, Kay E.; Porteous, David J.; Brookes, Anthony J.

doi:10.1016/0167-4781(96)00097-8

Cited by 7 publications

(7 citation statements)

References 27 publications

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“…The deleted region contains 10 genes at least (Morrison et al, 1996). The Survival Motor Neuron (SMN) gene is responsible for the disease phenotype.…”

Section: Introductionmentioning

confidence: 99%

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

et al. 2001

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Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a newborn prevalence of 1 in 10,000, and a carrier frequency of 1 in 40-60 individuals. The SMA locus has been mapped to chromosome 5q11.2-13. The disease is caused by a deletion of the SMN gene, often encompassing other genes and microsatellite markers. The SMN gene is present in two highly homologous copies, SMN1 and SMN2, differing at five nucleotide positions. Only homozygous SMN1 mutations cause the disease. The sequence similarity between the SMN1 and SMN2 genes can make molecular diagnosis and carrier identification difficult. We developed a sensitive and reliable molecular test for SMN1 carrier identification, by setting up a nonradioactive single strand conformation polymorphism (SSCP)-based method, which allows for the quantification of the amount of the SMN1 gene product with respect to a control gene. The assay was validated in 56 obligate (ascertained) carriers and 20 (ascertained) noncarriers. The sensitivity of the test is 96.4%, and its specificity, 98%. In addition, 6 of 7 SMA patients without homozygous deletions presented with a heterozygous deletion, suggesting a concomitant undetected point mutation on the nondeleted SMN1 allele. Therefore, the present test is effective for detecting compound hemizygote patients, for testing carriers in SMA families, and for screening for SMA heterozygotes in the general population.

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“…The deleted region contains 10 genes at least (Morrison et al, 1996). The Survival Motor Neuron (SMN) gene is responsible for the disease phenotype.…”

Section: Introductionmentioning

confidence: 99%

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

et al. 2001

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“…Three of these were identical to cDNAs identified in the SMA region. 26 We previously identified cDNA fragments with more than 90% similarity to genes from the SMA region at 5q13.1 in this cluster indicating the presence of an interchromosomally duplicated region. 27 The SMA region contains many deletions, duplications, pseudogenes, and repetitive elements and is thus thought to be an unstable area of the human genome.…”

Section: Sma Homology Registermentioning

confidence: 99%

“…26 Clones corresponding to cryptic spliced products of the exon trapping vector pSPL3 B, or due to contaminations such as E. coli, yeast, mitochondrial, and ribosomal sequences, or containing mainly repeat elements, were not considered further. Clones identical to ESTs in the database, were extended where possible using the GCG Fragment Assembly System.…”

Section: Sequence Analysismentioning

confidence: 99%

“…Three of these were identical to cDNAs isolated from 5q13.1. 26 Analysis of this region has identified fragments with strong similarity to genes and STS from the SMA locus at 5q13.1, indicating that this distal region of 6p21.3 may be paralogous with 5q13.1 27 [now published]. All cDNA fragments detected only one major fragment when used as probes on Southern blots of both EcoRI digested YACs and BamH1/ScaI digested cosmids.…”

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confidence: 99%

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Generation of a transcription map distal to HLA-F

et al. 1998

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We have constructed a transcription map covering a 2 Mb region beginning approximately 1 Mb distal to HLA-F. Cosmids isolated from a chromosome 6 library were positioned by YAC hybridisation, STS and fingerprint analysis. Using direct cDNA selection, exon trapping, and direct genomic sequence analysis, we identified 42 potential exonic fragments in this region. Six fragments corresponded to previously characterised genes, four previously broadly mapped to this region. Five fragments were similar to known genes, eight fragments matched ESTs and 10 of the remaining 23 novel fragments, gave a positive signal on northern analysis. All cDNA fragments were mapped to the YAC and cosmid contig covering the region and with respect to other known genes and STS in this area. The distribution of the cDNA fragments indicated their organisation in three clusters around CpG islands.

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“…10 Deletion events within this region were found to be associated with SMA,11 12 and in 1995, two candidate genes within this region were postulated: the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes 13-16. This region of the genome is complex and inherently unstable, with two almost identical copies of SMN, one centromeric and one telomeric, and multiple copies of pseudogenes of NAIP17 (fig 1). …”

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confidence: 99%

Molecular diagnosis of spinal muscular atrophy

Stewart

Wallace

McGaughran

et al. 1998

Archives of Disease in Childhood

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The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and retrospective review of case notes. In type I SMA, 16 of 17 cases were homozygously deleted for exons 7 and 8 of SMN, 14 of 17 were homozygously deleted for exon 5 of NAIP, and 13 of 17 were deleted for both. In types II and III SMA, seven of nine cases were deleted for exons 7 and 8 of SMN. Deletions of SMN and NAIP occurred in four of nine cases. With one exception, the deletion genotypes of probands, aVected siblings, and terminated fetuses were identical. Molecular studies are replacing conventional investigations for SMA and have a high uptake prenatally. (Arch Dis Child 1998;78:531-535)

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Novel transcribed sequences represented in the complex genomic region 5q13

Cited by 7 publications

References 27 publications

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

Generation of a transcription map distal to HLA-F

Molecular diagnosis of spinal muscular atrophy

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