Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation

Abstract The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include Fragile X-associated Tremor/Ataxia Syn...

Full description

Bibliographic Details
Main Authors: Ye Hyun Hwang, Bruce Eliot Hayward, Marwa Zafarullah, Jay Kumar, Blythe Durbin Johnson, Peter Holmans, Karen Usdin, Flora Tassone
Format: Article
Language:English
Published: Nature Portfolio 2022-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-14183-0

Internet

https://doi.org/10.1038/s41598-022-14183-0

Similar Items