NEW YORK (Reuters Health) Mar 11 – German and Italian investigators have uncovered a previously unrecognized type of mutation in which a small deletion within an intron causes improper RNA splicing and predisposes the carrier to cancer. These findings suggest that inducing changes in the carrier's small nuclear ribonucleoproteins (snRNPs) could correct the defect.
The gene ATM is mutated in individuals with ataxia-telangiectasia, Dr. Francisco E. Baralle, of the International Centre for Genetic Engineering and Biotechnology in Trieste, Italy, and associates note in the Advance Online Publication of Nature Genetics for March 11th. They describe a case where an abnormal 65-nucleotide insertion in an intron between exons 20 and 21 acts like a cryptic exon that alters the mRNA transcript.
The insertion differed from commonly encountered cryptic exons by its canonical splicing regulatory elements and was unaffected by the accompanying 4-nucleotide deletion.
The ATM sequence affected by the deletion-termed intron-splicing processing element (ISPE)-is homologous with 3' and 5' splice sites, and 12 bases are complementary to U1 snRPN. The strength of this complementary association is related to the splicing defect. Complementation experiments with mutant U1 snRNA showed that progressive disappearance of the cryptic exon restored normalcy to intron processing.
e-Med Tools
קצר קולע וממוקד
e-Med סמינרים
אי-מד תחקירים
Medscape Tools
Journal Club
מרכזי מידע ושירות
Facebook
מידע למפרסם
מאגר תרופות
מאגר אנשי המקצוע
אינדקס שימושי
חדשות משה"ב
eMed HealthClub
מחקרים קליניים
השאירו תגובה
רוצה להצטרף לדיון?תרגישו חופשי לתרום!