Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

2017 ◽  
Vol 58 (1) ◽  
pp. 10-15 ◽  
Author(s):  
Jamil Amjad Hashmi ◽  
Maan Abdullah Albarry ◽  
Ahmed M. Almatrafi ◽  
Alia M. Albalawi ◽  
Amer Mahmood ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Base Pair ◽  
Insertion Mutation ◽  
Single Base ◽  
Whole Exome ◽  
Generation Family ◽  
Single Base Pair ◽  
Base Pair Insertion

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis

2019 ◽  
Author(s):  
Hans Albertsen ◽  
Charoula Matalliotaki ◽  
Michail Matalliotakis ◽  
Maria Zervou ◽  
Ioannis Matalliotakis ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Generation Family

In Vitro Activation of a Nonproductive Immunoglobulin Allele by a Single Base Pair Insertion

Hybridoma ◽  
1994 ◽  
Vol 13 (4) ◽  
pp. 257-261
Author(s):  
BARRY J. KOBRIN ◽  
CAROLYN SCHIFF ◽  
DANA ZIVION ◽  
MATTHEW D. SCHARFF ◽  
GADI SPIRA1
Keyword(s):  
Base Pair ◽  
Single Base ◽  
In Vitro Activation ◽  
Single Base Pair ◽  
Base Pair Insertion

scholarly journals Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

2011 ◽  
Vol 88 (2) ◽  
pp. 201-206 ◽  
Author(s):  
Stephan Züchner ◽  
Julia Dallman ◽  
Rong Wen ◽  
Gary Beecham ◽  
Adam Naj ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

2011 ◽  
Vol 19 (10) ◽  
pp. 1109-1109
Author(s):  
Sara J Bowne ◽  
Marian M Humphries ◽  
Lori S Sullivan ◽  
Paul F Kenna ◽  
Lawrence CS Tam ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Dominant Mutation ◽  
Whole Exome

scholarly journals SEQUENCING STUDIES OF ICR-170 MUTAGENIC SPECIFICITY IN THE am (NADP-SPECIFIC GLUTAMATE DEHYDROGENASE) GENE OF NEUROSPORA CRASSA

Genetics ◽  
1986 ◽  
Vol 113 (1) ◽  
pp. 45-51
Author(s):  
Philip A Burns ◽  
Jane H Kinnaird ◽  
Brian J Kilbey ◽  
John R S Fincham
Keyword(s):  
Neurospora Crassa ◽  
Base Pair ◽  
Uv Light ◽  
Base Pairs ◽  
Single Base ◽  
Base Pair Deletion ◽  
Dehydrogenase Gene ◽  
Sequencing Studies ◽  
Single Base Pair ◽  
Base Pair Insertion

ABSTRACT The acridine half-mustard ICR-170-induced reversion of the mutant am15, which has a single base-pair deletion, at a frequency of between 9 and 28 × 10-6. In each of three classes of revertants, the mutagen had induced the insertion of a (see PDF) base pair at a (see PDF) site. The mutant am6, which has a single base pair insertion, is known to be revertible, with UV light, by deletion of a (see PDF) base pair at a (see PDF) site. This mutant reverted with ICR-170 at a frequency of 0.1 × 10-6. These results show that ICR-170 is able to induce addition frameshifts in Neurospora crassa within short, monotonous runs of G:C base pairs, but indicate a lack of deletion activity at such sequences.

scholarly journals Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Juan Wu ◽  
Lijia Chen ◽  
Oi Sin Tam ◽  
Xiu-Feng Huang ◽  
Chi-Pui Pang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Direct Sequencing ◽  
Genetic Defect ◽  
Chinese Family ◽  
Next Generation ◽  
Whole Exome ◽  
Generation Sequencing

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.

scholarly journals Salmonella enterica Serovar Paratyphi C Carries an Inactive Shufflon

2004 ◽  
Vol 72 (1) ◽  
pp. 22-28 ◽  
Author(s):  
Connie K. P. Tam ◽  
Jim Hackett ◽  
Christina Morris
Keyword(s):  
Typhoid Fever ◽  
Base Pair ◽  
Salmonella Enterica ◽  
Enteric Fever ◽  
Terminal Region ◽  
Inverted Repeats ◽  
Single Base ◽  
Single Base Pair ◽  
Self Association ◽  
Base Pair Insertion

ABSTRACT Salmonella enterica serovar Typhi uses type IVB pili to facilitate bacterial self-association, but only when the PilV proteins (potential minor pilus proteins) are not synthesized. This pilus-mediated event may be important in typhoid fever pathogenesis. We initially show that S. enterica serovar Paratyphi C strains harbor a pil operon very similar to that of serovar Typhi. An important difference, however, is located in the shufflon which concludes the pil operon. In serovar Typhi, the Rci recombinase acts upon two 19-bp inverted repeats to invert the terminal region of the pilV gene, thereby disrupting PilV synthesis and permitting bacterial self-association. In serovar Paratyphi C, however, the shufflon is essentially inactive because each of the Rci 19-bp substrates has acquired a single base pair insertion. A PilV protein is thus synthesized whenever the pil operon is active, and bacterial self-association therefore does not occur in serovar Paratyphi C. The data thus suggest that serovar Typhi bacterial self-association using type IVB pili may be important in the pathogenesis of epidemic enteric fever.

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