The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding

Christian L. Lorson, Elliot Androphy

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron (SMN) is the SMA-determining gene and is deleted or gene converted in > 95% of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. In this report, direct SMN RNA-binding activity, in addition to ssDNA and dsDNA binding is demonstrated. The region of SMN encoded by exon 2 is necessary and sufficient to mediate its nucleic acid-binding activities. This domain is homologous to several nucleic acid-binding factors, including several high mobility group (HMG) proteins. Additionally, previously reported SMN missense mutations isolated from SMA patients demonstrated reduced RNA-binding activity, suggesting that nucleic acid binding is functionally significant.

Original languageEnglish (US)
Pages (from-to)1269-1275
Number of pages7
JournalHuman Molecular Genetics
Volume7
Issue number8
StatePublished - Aug 1998
Externally publishedYes

Fingerprint

Survival of Motor Neuron 2 Protein
Motor Neurons
Nucleic Acids
Spinal Muscular Atrophy
Exons
RNA
Coiled Bodies
Small Nuclear Ribonucleoproteins
High Mobility Group Proteins
Anterior Horn Cells
Missense Mutation
Genes
Cell Death

ASJC Scopus subject areas

  • Genetics

Cite this

The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding. / Lorson, Christian L.; Androphy, Elliot.

In: Human Molecular Genetics, Vol. 7, No. 8, 08.1998, p. 1269-1275.

Research output: Contribution to journalArticle

@article{c86aaf24892741deaf95abc152ce761b,
title = "The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding",
abstract = "Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron (SMN) is the SMA-determining gene and is deleted or gene converted in > 95{\%} of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. In this report, direct SMN RNA-binding activity, in addition to ssDNA and dsDNA binding is demonstrated. The region of SMN encoded by exon 2 is necessary and sufficient to mediate its nucleic acid-binding activities. This domain is homologous to several nucleic acid-binding factors, including several high mobility group (HMG) proteins. Additionally, previously reported SMN missense mutations isolated from SMA patients demonstrated reduced RNA-binding activity, suggesting that nucleic acid binding is functionally significant.",
author = "Lorson, {Christian L.} and Elliot Androphy",
year = "1998",
month = "8",
language = "English (US)",
volume = "7",
pages = "1269--1275",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "8",

}

TY - JOUR

T1 - The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding

AU - Lorson, Christian L.

AU - Androphy, Elliot

PY - 1998/8

Y1 - 1998/8

N2 - Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron (SMN) is the SMA-determining gene and is deleted or gene converted in > 95% of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. In this report, direct SMN RNA-binding activity, in addition to ssDNA and dsDNA binding is demonstrated. The region of SMN encoded by exon 2 is necessary and sufficient to mediate its nucleic acid-binding activities. This domain is homologous to several nucleic acid-binding factors, including several high mobility group (HMG) proteins. Additionally, previously reported SMN missense mutations isolated from SMA patients demonstrated reduced RNA-binding activity, suggesting that nucleic acid binding is functionally significant.

AB - Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron (SMN) is the SMA-determining gene and is deleted or gene converted in > 95% of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. In this report, direct SMN RNA-binding activity, in addition to ssDNA and dsDNA binding is demonstrated. The region of SMN encoded by exon 2 is necessary and sufficient to mediate its nucleic acid-binding activities. This domain is homologous to several nucleic acid-binding factors, including several high mobility group (HMG) proteins. Additionally, previously reported SMN missense mutations isolated from SMA patients demonstrated reduced RNA-binding activity, suggesting that nucleic acid binding is functionally significant.

UR - http://www.scopus.com/inward/record.url?scp=0031829338&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031829338&partnerID=8YFLogxK

M3 - Article

VL - 7

SP - 1269

EP - 1275

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 8

ER -