ArticleGenome research2006
An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.
Article in Genome research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- The late arrival of domestic cats in China via the Silk Road after 3,500 years of human-leopard cat commensalism.Cell genomics · 2026Article
- Presumptive motor neuron degeneration in an adult cat.The Canadian veterinary journal = La revue veterinaire canadienne · 2024Article
- X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.Journal of veterinary internal medicine · 2022Article
- Spinal Muscular Atrophy in Blonde D'Aquitaine Calves Is Not Associated With FVT1 Gene Mutation.Frontiers in veterinary science · 2020Article
- Genomic approaches to identify hybrids and estimate admixture times in European wildcat populations.Scientific reports · 2019Article
- The practical use of genome sequencing data in the management of a feline colony pedigree.BMC veterinary research · 2017Article
- Chx10 Consolidates V2a Interneuron Identity through Two Distinct Gene Repression Modes.Cell reports · 2016Article
- DNA mutations of the cat: the good, the bad and the ugly.Journal of feline medicine and surgery · 2015Review
- Systemic AAVrh10 provides higher transgene expression than AAV9 in the brain and the spinal cord of neonatal mice.Frontiers in molecular neuroscience · 2015Article
- Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats.Gene therapy · 2014Article
- Genetic testing in domestic cats.Molecular and cellular probes · 2012Review
- Failure of lower motor neuron radial outgrowth precedes retrograde degeneration in a feline model of spinal muscular atrophy.The Journal of comparative neurology · 2012Article
- Article
- The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.Journal of ophthalmology · 2011Article
- Feline genetics: clinical applications and genetic testing.Topics in companion animal medicine · 2010Review
- Mutation discovered in a feline model of human congenital retinal blinding disease.Investigative ophthalmology & visual science · 2010Article
- Every genome sequence needs a good map.Genome research · 2009Article
- Drosophila lowfat, a novel modulator of Fat signaling.Development (Cambridge, England) · 2009Article
- Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
- Article
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Authors and funding
13 authors at 4 institutions in 4 countries.
Funding
Abstract
The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA type III. Here we report results of a whole-genome scan for linkage in the feline SMA pedigree using recently developed species-specific and comparative mapping resources. We identified a novel SMA gene candidate, LIX1, in an approximately140-kb deletion on feline chromosome A1q in a region of conserved synteny to human chromosome 5q15. Though LIX1 function is unknown, the predicted secondary structure is compatible with a role in RNA metabolism. LIX1 expression is largely restricted to the central nervous system, primarily in spinal motor neurons, thus offering explanation of the tissue restriction of pathology in feline SMA. An exon sequence screen of 25 human SMA cases, not otherwise explicable by mutations at the SMN1 locus, failed to identify comparable LIX1 mutations. Nonetheless, a LIX1-associated etiology in feline SMA implicates a previously undetected mechanism of motor neuron maintenance and mandates consideration of LIX1 as a candidate gene in human SMA when SMN1 mutations are not found.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.