Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs' effects on protein family evolution giving rise to gene duplicates or losses. "Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases.
D'Apice, M.r., Novelli, A., di Masi, A., Biancolella, M., Antoccia, A., Gullotta, F., et al. (2015). Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?. BMC MEDICAL GENETICS, 16(1), 1 [10.1186/s12881-015-0164-3].
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?
D'APICE, MARIA ROSARIA;BIANCOLELLA, MICHELA;GULLOTTA, FRANCESCA;MINELLA, DANIELA;TESTA, BARBARA;PALMIERI, GIAMPIERO;CALABRESE, EMMA;BIANCONE, LIVIA;FRONTALI, MARINA;SANGIUOLO, FEDERICA CARLA;NOVELLI, GIUSEPPE;PALLONE, FRANCESCO
2015-01-01
Abstract
Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs' effects on protein family evolution giving rise to gene duplicates or losses. "Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
