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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Principais autores:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2025-03-01
Serier:	Genome Medicine
Fag:	Spinal muscular atrophy Long-read sequencing Gene conversion Dark genomic regions Segmental duplications
Online adgang:	https://doi.org/10.1186/s13073-025-01448-2
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