A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia

2011 ◽  
Vol 10 (4) ◽  
pp. 3539-3544 ◽  
Author(s):  
C.Y. Fang ◽  
J.J Xue ◽  
L. Tan ◽  
C.H. Jiang ◽  
Q.P. Gao ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Cleidocranial Dysplasia ◽  
Single Base ◽  
Single Base Deletion

scholarly journals Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene

1998 ◽  
Vol 256 (1) ◽  
pp. 221-228 ◽  
Author(s):  
Mark A. Gibson ◽  
Sarah L. Ellis ◽  
Lesley C. Ades ◽  
Eric Haan ◽  
Edward G. Cleary
Keyword(s):  
Splice Site ◽  
Deletion Mutation ◽  
Single Base ◽  
Single Base Deletion

A single-base deletion mutation in a Turkish patient with fucosidosis

1994 ◽  
Vol 3 (4) ◽  
pp. 407-408 ◽  
Author(s):  
Hee-Chan Seo ◽  
Jürgen Kunze ◽  
Patrick J. Willems ◽  
Alex H. Kim ◽  
Folker Hanefeld ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Single Base ◽  
Turkish Patient ◽  
Single Base Deletion

A single-base deletion mutation in SlIAA9 gene causes tomato (Solanum lycopersicum) entire mutant

2007 ◽  
Vol 120 (6) ◽  
pp. 671-678 ◽  
Author(s):  
Junhong Zhang ◽  
Rugang Chen ◽  
Jinhua Xiao ◽  
Chunjian Qian ◽  
Taotao Wang ◽  
...  
Keyword(s):  
Solanum Lycopersicum ◽  
Deletion Mutation ◽  
Single Base ◽  
Single Base Deletion

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome

2019 ◽  
Vol 138 (2) ◽  
pp. 147-152 ◽  
Author(s):  
Kenji Ozawa ◽  
Kiyofumi Mochizuki ◽  
Yusuke Manabe ◽  
Nobuaki Yoshikura ◽  
Takayoshi Shimohata ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Retinal Dystrophy ◽  
Deletion Mutation ◽  
Melas Syndrome ◽  
Single Base ◽  
Single Base Deletion

scholarly journals A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

2009 ◽  
Vol 54 (7) ◽  
pp. 422-425 ◽  
Author(s):  
Dan Lv ◽  
Yang Luo ◽  
Wei Yang ◽  
Lihua Cao ◽  
Yaran Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Single Base ◽  
Single Base Deletion

scholarly journals Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Dewei Li ◽  
Le Tian ◽  
Xiaochuan Wang ◽  
Min Chen
Keyword(s):  
Missense Mutation ◽  
Penetrating Keratoplasty ◽  
Vision Loss ◽  
Corneal Dystrophy ◽  
Postoperative Recurrence ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Colloidal Iron ◽  
Macular Corneal Dystrophy

Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese family with MCD. Methods Genomic DNA was extracted from the peripheral blood, and next generation sequencing was used to analyse the gene sequence. The pathogenic mutations were identified in all affected family members. The proband successively received binocular penetrating keratoplasty (PKP), and the corneas were examined by histopathology and colloidal iron staining to prove the diagnosis. A long-term follow-up was made to observe the changes after PKP. Results Genetic analysis demonstrated hemizygous mutations in the proband, including a novel c.520A>C (p.K174Q) missense mutation and a rarely reported exon 3 deletion mutation, which were co-segregated with the MCD phenotypes in the pedigree. The positive colloidal iron staining confirmed the diagnosis of MCD in the proband. However, the clinical phenotype and pathological manifestation of both eyes were different from each other because of complicated keratitis in the left eye. During the nine years of follow-up, visual acuity was improved significantly, and the cornea was transparent without rejection and postoperative recurrence in both eyes. Conclusions The novel hemizygous mutations were thought to contribute to the loss of CHST6 function, which induced typical clinical and pathological features of MCD. PKP was an effective treatment for MCD.

scholarly journals Heterotrimeric PCNA Increases the Activity and Fidelity of Dbh, a Y-family Translesion DNA Polymerase Prone to Creating Single-Base Deletion Mutations

2020 ◽  
Author(s):  
Yifeng Wu ◽  
William Jaremko ◽  
Ryan C. Wilson ◽  
Janice D. Pata
Keyword(s):  
Dna Synthesis ◽  
Dna Polymerase ◽  
Polymerase Activity ◽  
List Type ◽  
Single Base ◽  
Deletion Mutations ◽  
Single Base Deletion ◽  
Translesion Dna ◽  
Y Family

AbstractDbh is a Y-family translesion DNA polymerase from Sulfolobus acidocaldarius, an archaeal species that grows in harsh environmental conditions. Biochemically, Dbh displays a distinctive mutational profile, creating single-base deletion mutations at extraordinarily high frequencies (up to 50%) in specific repeat sequences. In cells, however, Dbh does not appear to contribute significantly to spontaneous frameshifts in these same sequence contexts. This suggests that either the error-prone DNA synthesis activity of Dbh is reduced in vivo and/or Dbh is restricted from replicating these sequences. Here, we test the hypothesis that the propensity for Dbh to make single base deletion mutations is reduced through interaction with the S. acidocaldarius heterotrimeric sliding clamp processivity factor, PCNA-123. We first confirm that Dbh physically interacts with PCNA-123, with the interaction requiring both the PCNA-1 subunit and the C-terminal 10 amino acids of Dbh, which contain a predicted PCNA-interaction peptide (PIP) motif. This interaction stimulates the polymerase activity of Dbh, even on short, linear primer-template DNA by increasing the rate of nucleotide incorporation. This stimulation requires an intact PCNA-123 heterotrimer and a DNA duplex length of at least 18 basepairs, the minimal length predicted from structural data to bind to both the polymerase and the clamp. Finally, we find that PCNA-123 increases the fidelity of Dbh on a single-base deletion hotspot sequence 3-fold by promoting an increase in the rate of correct, but not incorrect, nucleotide addition and propose that PCNA-123 induces Dbh to adopt a more active conformation that is less prone to creating deletions during DNA synthesis.HighlightsPCNA increases the fidelity of Dbh polymerase on a deletion-hotspot sequence.The interaction stimulates incorporation of the correct, but not incorrect, nucleotide.A minimal duplex length of 18 bp is required for PCNA to stimulate polymerase activity.Structural modeling suggests that PCNA induces a conformational change in Dbh.

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