Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

Human genetics - 1 Mar 2001

Rochette C F, Gilbert N, Simard L R

Abstract excerpt

The spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (SMN1) gene cause SMA, a common lethal childhood neuropathy. We have used a number of approaches to probe the evolutionary history of these genes and show that SMN gene duplication and the appearance of SMN2 occurred at very distinct evolutionary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line, Transformed
Share to Cyclic AMP Response Element-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Pan troglodytes

Share to RNA-Binding Proteins

Share to SMN Complex Proteins

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 11354640
DOI: 10.1007/s004390100473

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.PMID 11354640Read ↗

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.Semantic proximity Read ↗

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.Semantic proximity Read ↗

<i>SMN1</i> copy-number and sequence variant analysis from next generation sequencing dataSemantic proximity Read ↗

SMN1 copy‐number and sequence variant analysis from next‐generation sequencing dataSemantic proximity Read ↗

Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophySemantic proximity Read ↗

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.Semantic proximity Read ↗

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.Semantic proximity Read ↗

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Semantic proximity Read ↗

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.Semantic proximity Read ↗

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Semantic proximity Read ↗

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counsellingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.