INVESTIGADORES
SREBROW Anabella
artículos
Título:
The connection between splicing and cancer
Autor/es:
SREBROW, A; KORNBLIHTT, A.R
Revista:
JOURNAL OF CELL SCIENCE
Editorial:
The Company of Biologists
Referencias:
Año: 2006 vol. 119 p. 2635 - 2641
ISSN:
0021-9533
Resumen:
Alternative splicing is a crucial mechanism for generating
protein diversity. Different splice variants of a given protein
can display different and even antagonistic biological
functions. Therefore, appropriate control of their synthesis
is required to assure the complex orchestration of cellular
processes within multicellular organisms. Mutations in cis-acting
splicing elements or changes in the activity of
regulatory proteins that compromise the accuracy of either
constitutive or alternative splicing could have a profound
impact on human pathogenesis, in particular in tumor
development and progression. Mutations in splicing
elements, for example, have been found in genes such as
LKB1, KIT, CDH17, KLF6 and BRCA1, and changes in
trans-acting regulators can affect the expression of genes
such as Ron, RAC1 and CD44.