Citation
Nakamura, K, et al. "A Novel Single-base Substitution (380C>T) That Activates a 5-base Downstream Cryptic Splice-acceptor Site Within Exon 5 in Almost All Transcripts in the Human Mitochondrial acetoacetyl-CoA Thiolase Gene." Molecular Genetics and Metabolism, vol. 72, no. 2, 2001, pp. 115-21.
Nakamura K, Fukao T, Perez-Cerda C, et al. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab. 2001;72(2):115-21.
Nakamura, K., Fukao, T., Perez-Cerda, C., Luque, C., Song, X. Q., Naiki, Y., Kohno, Y., Ugarte, M., & Kondo, N. (2001). A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Molecular Genetics and Metabolism, 72(2), 115-21.
Nakamura K, et al. A Novel Single-base Substitution (380C>T) That Activates a 5-base Downstream Cryptic Splice-acceptor Site Within Exon 5 in Almost All Transcripts in the Human Mitochondrial acetoacetyl-CoA Thiolase Gene. Mol Genet Metab. 2001;72(2):115-21. PubMed PMID: 11161837.
TY - JOUR
T1 - A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
AU - Nakamura,K,
AU - Fukao,T,
AU - Perez-Cerda,C,
AU - Luque,C,
AU - Song,X Q,
AU - Naiki,Y,
AU - Kohno,Y,
AU - Ugarte,M,
AU - Kondo,N,
PY - 2001/2/13/pubmed
PY - 2001/5/1/medline
PY - 2001/2/13/entrez
SP - 115
EP - 21
JF - Molecular genetics and metabolism
JO - Mol Genet Metab
VL - 72
IS - 2
N2 - Most mutation-related aberrant splicing occurs in the conserved splice-acceptor and -donor sites and some exonic mutations also affect splicing. We identified and characterized a point mutation (380C>T) in a Spanish patient (GK25) with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. GK25 is a homozygote of 380C>T, which activates a cryptic splice-acceptor site 5 bases downstream from 380C>T within exon 5, causing aberrant splicing in 94% of transcripts. The aberrant splicing results in a 17-amino acids deletion, including the active-site 126Cys. The 380C>T mutation also results in A127V mutation in 6% of transcripts. Transient expression analysis showed that the A127V mutation did not retain T2 activity, indicating that 380C>T was a null mutation. Although this cryptic splice site has a higher Shapiro and Senapathy's score (86) in even a normal sequence than the authentic splice-acceptor site of intron 4 (78), it is not used in normal controls. While the 380C>T mutation increases the score slightly (90), the cryptic splice site is used in almost all transcripts in GK25 fibroblasts. This is an example in which a point mutation activates a cryptic splice-acceptor site motif that is used preferentially over the upstream authentic splice site.
SN - 1096-7192
UR - https://www.unboundmedicine.com/medline/citation/11161837/A_novel_single_base_substitution__380C>T__that_activates_a_5_base_downstream_cryptic_splice_acceptor_site_within_exon_5_in_almost_all_transcripts_in_the_human_mitochondrial_acetoacetyl_CoA_thiolase_gene_
DB - PRIME
DP - Unbound Medicine
ER -