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Full-Text Articles in Animal Sciences
An ∼140-Kb Deletion Associated With Feline Spinal Muscular Atrophy Implies An Essential Lix1 Function For Motor Neuron Survival, John C. Fyfe, Marilyn Menotti-Raymond, Victor A. David, Lars Brichta, Alejandro A. Schaffer, R. Agarwala, William J. Murphy, William J. Wedemeyer, Brittany L. Gregory, Bethany G. Buzzell, Meghan C. Drummond, Brunhilde Wirth, Stephen J. O'Brien
An ∼140-Kb Deletion Associated With Feline Spinal Muscular Atrophy Implies An Essential Lix1 Function For Motor Neuron Survival, John C. Fyfe, Marilyn Menotti-Raymond, Victor A. David, Lars Brichta, Alejandro A. Schaffer, R. Agarwala, William J. Murphy, William J. Wedemeyer, Brittany L. Gregory, Bethany G. Buzzell, Meghan C. Drummond, Brunhilde Wirth, Stephen J. O'Brien
Biology Faculty Articles
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 ~140-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 …