The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

• Published in: American journal of human genetics Vol. 95; no. 2; pp. 143 - 161
• Main Authors: Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 07.08.2014; Cell Press; Elsevier
• Subjects: Adenosine Triphosphatases - genetics; Alu Elements - genetics; Alzheimer's disease; Base Sequence; Cation Transport Proteins - genetics; Cell Line, Transformed; Deoxyribonucleic acid; DNA; DNA Copy Number Variations - genetics; Gene loci; Genomics; Genotype; Genotype & phenotype; Humans; Mutation; Pathogenesis; Protein Isoforms - genetics; Recombinant Fusion Proteins - genetics; Sequence Analysis, DNA; Sequence Deletion; Spastic Paraplegia, Hereditary - genetics; Spastin

Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins and molecular conseq...