Alternatively Spliced Genes
155
Tab. 4
(
continued
)
Diseases
Genes
Aberrant splicing
Neurodegenerative
diseases
FTDP-17
Tau
Imbalance of splicing
isoforms
Alzheimer’s disease
Presenilin-1
Exon skipping
Alzheimer’s disease
Presenilin-2
Exon skipping
Ataxia telangiectasia
ATM
Cryptic ss usage
Multiple sclerosis
CD45
Imbalance of splicing
isoforms
Spinal muscular
atrophy
SMN1, SMN2
Exon skipping
Retinitis pigmentosa
HPRP3, PRPF31,
PRPC8
Unknown
Psychiatric
disorders
Schizophrenia
GABA
A
R
γ
2, NCAM
Imbalance of splicing
isoforms
Schizophrenia
NMDAR1
Aberrant alternative
splicing
ADHD
Nicotinic
acetylcholine
receptor
Aberrant alternative
splicing
Other syndromes or
diseases
Cystic ±brosis
CFTR
Exon skipping
IGHD II
GH-1
Imbalance of splicing
isoforms
Frasier syndrome
WT 1
Imbalance of splicing
isoforms
Epilepsy
AMPA receptor
Imbalance of splicing
isoforms
Menkes disease
MNK
Exon skipping
Beta-thalassemia
β
-globin
Cryptic ss usage
Metachromatic
leukodystrophy
Arylsulfatase A
Cryptic ss usage
Myotonic dystrophy
DMPK
(CUG)n
expansion:aberrant
splicing
chromosomal translocation have been re-
ported. Such aberrant gene fusion-splicing
products may contribute to pathogene-
sis of tumors caused by chromosomal
translocation. Finally, the development of
drug resistance has been associated with
changes in alternative splicing of members
of multidrug resistance genes or genes
involved in drug metabolism.
Cardiovascular diseases are among the
leading causes of human death. Aber-
rant splicing of structural genes such as
cTNT is associated with cardiomyopathy.
Splicing defects resulting in the formation
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