scholarly journals Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

1999 ◽  
Vol 65 (2) ◽  
pp. 336-344 ◽  
Author(s):  
Ulrike Schwarze ◽  
Barbra J. Starman ◽  
Peter H. Byers
Keyword(s):  
Type I Collagen ◽  
Donor Site ◽  
Splice Site Mutation ◽  
Splice Donor Site ◽  
Type I ◽  
Splice Donor ◽  
Site Mutation ◽  
Col1a1 Gene ◽  
Intron Splice ◽  
Splice Donor Site Mutation

scholarly journals A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated proα1(I) chains with a non-collagenous insertion destabilizing the triple helix

1994 ◽  
Vol 302 (3) ◽  
pp. 729-735 ◽  
Author(s):  
J F Bateman ◽  
D Chan ◽  
I Moeller ◽  
M Hannagan ◽  
W G Cole
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Donor Site ◽  
Mrna Splicing ◽  
Splice Donor Site ◽  
Sequence Motif ◽  
Type I ◽  
Splice Donor ◽  
Site Mutation ◽  
Definition Of

A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta. The splice donor site mutation resulted not only in the skipping of the upstream exon 8 but also unexpectedly had the secondary effect of activating a cryptic splice site in the next upstream intron, intron 7, leading to re-definition of the 3′ limit of exon 7. These pre-mRNA splicing aberrations cause the deletion of exon 8 sequences from the mature mRNA and the inclusion of 96 bp of intron 7 sequence. Since the mis-splicing of the mutant allele product resulted in the maintenance of the correct codon reading frame, the resultant pro alpha 1(I) chain contained a short non-collagenous 32-amino-acid sequence insertion within the repetitive Gly-Xaa-Yaa collagen sequence motif. At the protein level, the mutant alpha 1(I) chain was revealed by digestion with pepsin, which cleaved the mutant procollagen within the protease-sensitive non-collagenous insertion, producing a truncated alpha 1(I). This protease sensitivity demonstrated the structural distortion to the helical structure caused by the insertion. In long-term culture with ascorbic acid, which stimulates the formation of a mature crosslinked collagen matrix, and in tissues, there was no evidence of the mutant chain, suggesting that during matrix formation the mutant chain was unable to stably incorporated into the matrix and was degraded proteolytically.

A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning

Gene ◽  
2013 ◽  
Vol 532 (2) ◽  
pp. 297-301 ◽  
Author(s):  
Xiuyan Shi ◽  
Chunyan Ji ◽  
Lihua Cao ◽  
Yuhong Wu ◽  
Yuyang Shang ◽  
...  
Keyword(s):  
Cortical Bone ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor ◽  
Site Mutation ◽  
Splice Donor Site Mutation

Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome

2012 ◽  
Vol 11 (4) ◽  
pp. 559-564 ◽  
Author(s):  
Masanobu Takahashi ◽  
Yoichi Furukawa ◽  
Hideki Shimodaira ◽  
Masato Sakayori ◽  
Takuya Moriya ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Japanese Patient ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor ◽  
Site Mutation ◽  
Aberrant Splicing ◽  
Splice Donor Site Mutation

scholarly journals α-Thalassaemia as a result of a novel splice donor site mutation of the α1 -globin gene

2000 ◽  
Vol 110 (3) ◽  
pp. 694-698 ◽  
Author(s):  
C. L. Harteveld ◽  
C. Beijer ◽  
P. Van Delft ◽  
R. Zanardini ◽  
L. F. Bernini ◽  
...  
Keyword(s):  
Globin Gene ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor ◽  
Site Mutation ◽  
Splice Donor Site Mutation

Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy

1999 ◽  
Vol 277 (2) ◽  
pp. C225-C232 ◽  
Author(s):  
Hiroyuki Nakaura ◽  
Sachio Morimoto ◽  
Fumi Yanaga ◽  
Masashi Nakata ◽  
Hirofumi Nishi ◽  
...  
Keyword(s):  
Amino Acids ◽  
Troponin T ◽  
Donor Site ◽  
Splice Donor Site ◽  
Wild Type ◽  
Splice Donor ◽  
Site Mutation ◽  
Dependent Protein Kinase ◽  
Dependent Protein ◽  
Splice Donor Site Mutation

A splice donor site mutation in intron 15 of the cardiac troponin T (TnT) gene has been shown to cause familial hypertrophic cardiomyopathy (HCM). In this study, two truncated human cardiac TnTs expected to be produced by this mutation were expressed in Escherichia coli and partially (50–55%) exchanged into rabbit permeabilized cardiac muscle fibers. The fibers into which a short truncated TnT, which lacked the COOH-terminal 21 amino acids because of the replacement of 28 amino acids with 7 novel residues, had been exchanged generated a Ca2+-activated maximum force that was slightly, but statistically significantly, lower than that generated by fibers into which wild-type TnT had been exchanged when troponin I (TnI) was phosphorylated by cAMP-dependent protein kinase. A long truncated TnT simply lacking the COOH-terminal 14 amino acids had no significant effect on the maximum force-generating capability in the fibers with either phosphorylated or dephosphorylated TnI. Both these two truncated TnTs conferred a lower cooperativity and a higher Ca2+ sensitivity on the Ca2+-activated force generation than did wild-type TnT, independent of the phosphorylation of TnI by cAMP-dependent protein kinase. The results demonstrate that the splice donor site mutation in the cardiac TnT gene impairs the regulatory function of the TnT molecule, leading to an increase in the Ca2+ sensitivity, and a decrease in the cooperativity, of cardiac muscle contraction, which might be involved in the pathogenesis of HCM.

scholarly journals A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family

2016 ◽  
Vol 64 (5) ◽  
pp. 364 ◽  
Author(s):  
Xiuqing Zhang ◽  
Juan Bu ◽  
Sijie He ◽  
Lejin Wang ◽  
Jiankang Li ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Donor Site ◽  
Splice Donor Site ◽  
Chinese Family ◽  
Splice Donor ◽  
Site Mutation ◽  
Splice Donor Site Mutation

α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

Hemoglobin ◽  
2006 ◽  
Vol 30 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Cornelis L. Harteveld ◽  
Max C. W. Jebbink ◽  
Nico van der Lely ◽  
Peter van Delft ◽  
Nicole Akkermans ◽  
...  
Keyword(s):  
Globin Gene ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor ◽  
Site Mutation ◽  
Splice Donor Site Mutation

Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene

2015 ◽  
Vol 28 (1-2) ◽  
Author(s):  
Minjing Zou ◽  
Derya Buluş ◽  
Roua A. Al-Rijjal ◽  
Nesibe Andıran ◽  
Huda BinEssa ◽  
...  
Keyword(s):  
Donor Site ◽  
Hypophosphatemic Rickets ◽  
Splice Donor Site ◽  
Splice Donor ◽  
Site Mutation ◽  
Phex Gene ◽  
Inactivating Mutations ◽  
Splice Donor Site Mutation

AbstractX-linked hypophosphatemic rickets (XLH) is the most common inherited form of rickets. XLH is caused by inactivating mutations in the

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