Linked Life Data

10675659

Source:http://linkedlifedata.com/resource/pubmed/id/10675659

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-4-24
pubmed:abstractText
Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of the anterior horn cells of the spinal cord. The gene most highly associated with SMA is the survival motor neuron (SMN) gene. In this study, we present an analysis of messenger RNA (mRNA) expression of the SMN gene in peripheral blood mononuclear cells in normal subjects, SMA carriers and patients from 20 SMA families. We found at least 6-8 different transcripts of SMN gene formed by alternative splicing involving exons 3, 5 and 7. We compared transcripts from the different types of SMA and found no definite differences in transcript patterns and amounts. Normal subjects with the telomeric SMN (SMN(T)) gene only had variable splicing resulting in several transcripts, the most dominant being a transcript containing all coding regions. However, SMA patients with the centromeric SMN (SMN(C)) gene only had a higher degree of splice variation and tended to show little or no exon 7. These results demonstrate that SMN(T) and SMN(C) genes participate in alternative splicing phenomena. The different splicing patterns support the view that the SMN(T) gene is responsible for SMA disease. We also analyzed the transcripts from several tissues of an SMA fetus who had a homozygous SMN(T) gene deletion. Different splicing patterns were also found in these tissues, and were similar to the splicing pattern of leukocytes. We compared the major transcripts from exons 4 to 8 of both the SMN(T) and SMN(C) genes and found that the relative proportion varied among normal subjects, SMA carriers and patients. This approach could be used as a novel diagnostic method. We suggest that analyzing the mRNA expression of the SMN gene in peripheral blood mononuclear cells offers an apparently reliable technique for separating SMA patients, carriers, and normal individuals.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
173
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
147-53
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:10675659-Adult, pubmed-meshheading:10675659-Alternative Splicing, pubmed-meshheading:10675659-Blotting, Southern, pubmed-meshheading:10675659-Centromere, pubmed-meshheading:10675659-Cyclic AMP Response Element-Binding Protein, pubmed-meshheading:10675659-Female, pubmed-meshheading:10675659-Fetal Diseases, pubmed-meshheading:10675659-Fetal Proteins, pubmed-meshheading:10675659-Gene Duplication, pubmed-meshheading:10675659-Heterozygote, pubmed-meshheading:10675659-Heterozygote Detection, pubmed-meshheading:10675659-Homozygote, pubmed-meshheading:10675659-Humans, pubmed-meshheading:10675659-Leukocytes, Mononuclear, pubmed-meshheading:10675659-Male, pubmed-meshheading:10675659-Multigene Family, pubmed-meshheading:10675659-Nerve Tissue Proteins, pubmed-meshheading:10675659-Prenatal Diagnosis, pubmed-meshheading:10675659-RNA, Messenger, pubmed-meshheading:10675659-RNA-Binding Proteins, pubmed-meshheading:10675659-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:10675659-SMN Complex Proteins, pubmed-meshheading:10675659-Sequence Deletion, pubmed-meshheading:10675659-Spinal Muscular Atrophies of Childhood, pubmed-meshheading:10675659-Telomere
pubmed:year
2000
pubmed:articleTitle
Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients.
pubmed:affiliation
Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. yjjong@mail.ht.net.tw
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't