Human spliceosomal diseases

Question 1

What spliceosomal proteins cause Rtinitis pigmentosa (RP)?

Answer 1

PRPF3, PRPF8, PRPF31, PAP1, Prp8 and Brr2

Question 2

What does RP say about human retinal cells?

Answer 2

They are especially sensitive to splicing defects

Question 3

Mutations in what minor spliceosomal snRNA causes microcephalic osteodysplastic primordial dwarfism (MOPD) type I?

Answer 3

U4tatac

Question 4

What core components of the U2 snRNP are mutated in chronic lymphocytic leukemia and myelodysplasia?

Answer 4

SF3B1 and U2AF35

Question 5

What can mutation of spliceosomal proteins cause?

Answer 5

defective snRNP assembly, deregulated alternative splicing, or accumulation of unspliced mRNA, and thus may alter the expression of multiple genes

Question 6

What has mis-regulation of splicing fator levels been shown to cause?

Answer 6

Neoplasia

Question 7

What is neoplasia?

Answer 7

An abnormal mass of tissue that forms when cells grow and divide more than they should or do not die when they should.

Question 8

How does a shift in expression level for major splicing facters explain cancer?

Answer 8

There is a extensive change of alternative splicing that is observed for thousands of genes in cancer patient samples