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Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

Abstract Background The complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular atrophy (SMA)-causing gene SMN1 and modifier SMN2, remains incompletely resolved due to numerous segmental duplications. Variation in SMN2 copy number, presumably influenced by SM...

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Gorde:
Egile Nagusiak: M. M. Zwartkruis, M. G. Elferink, D. Gommers, I. Signoria, L. Blasco-Pérez, M. Costa-Roger, J. van der Sel, I. J. Renkens, J. W. Green, J. V. Kortooms, C. Vermeulen, R. Straver, H. W. M. van Deutekom, J. H. Veldink, F. Asselman, E. F. Tizzano, R. I. Wadman, W. L. van der Pol, G. W. van Haaften, E. J. N. Groen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMC 2025-03-01
Saila:Genome Medicine
Gaiak:
Spinal muscular atrophy
Long-read sequencing
Gene conversion
Dark genomic regions
Segmental duplications
Sarrera elektronikoa:https://doi.org/10.1186/s13073-025-01448-2
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