Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia
Poikiloderma with neutropenia (PN) is an inherited haematopoietic stem cell disorder associated with predisposition to haematological malignancy. By determining the three-dimensional structure of the USB1 protein mutated in PN, we have made the surprising discovery that USB1 is an exoribonuclease involved in the maturation of spliceosomal U6 small nuclear RNA.
Blood. 2013 Feb 7