High mutation rate ofNPHP3in 18 Chinese infantile nephronophthisis patients

Nephrology ◽  
2016 ◽  
Vol 21 (3) ◽  
pp. 209-216 ◽  
Author(s):  
Liangzhong Sun ◽  
Huajuan Tong ◽  
Haiyan Wang ◽  
Zhihui Yue ◽  
Ting Liu ◽  
...  
Keyword(s):  
Mutation Rate ◽  
High Mutation Rate

scholarly journals Generation of Rodent Malaria Parasites with a High Mutation Rate by Destructing Proofreading Activity of DNA Polymerase δ

DNA Research ◽  
2014 ◽  
Vol 21 (4) ◽  
pp. 439-446 ◽  
Author(s):  
Hajime Honma ◽  
Makoto Hirai ◽  
Shota Nakamura ◽  
Hassan Hakimi ◽  
Shin-ichiro Kawazu ◽  
...  
Keyword(s):  
Dna Polymerase ◽  
Mutation Rate ◽  
High Mutation Rate ◽  
Malaria Parasites ◽  
Rodent Malaria ◽  
Dna Polymerase Δ

scholarly journals Rhopalocnemis phalloides has one of the most reduced and mutated plastid genomes known

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7500 ◽  
Author(s):  
Mikhail I. Schelkunov ◽  
Maxim S. Nuraliev ◽  
Maria D. Logacheva
Keyword(s):  
Plant Species ◽  
Mutation Rate ◽  
Plastid Genome ◽  
Gene Content ◽  
High Mutation Rate ◽  
Base Pairs ◽  
Plastid Genomes ◽  
The Family

Although most plant species are photosynthetic, several hundred species have lost the ability to photosynthesize and instead obtain nutrients via various types of heterotrophic feeding. Their plastid genomes markedly differ from the plastid genomes of photosynthetic plants. In this work, we describe the sequenced plastid genome of the heterotrophic plant Rhopalocnemis phalloides, which belongs to the family Balanophoraceae and feeds by parasitizing other plants. The genome is highly reduced (18,622 base pairs vs. approximately 150 kbp in autotrophic plants) and possesses an extraordinarily high AT content, 86.8%, which is inferior only to AT contents of plastid genomes of Balanophora, a genus from the same family. The gene content of this genome is quite typical of heterotrophic plants, with all of the genes related to photosynthesis having been lost. The remaining genes are notably distorted by a high mutation rate and the aforementioned AT content. The high AT content has led to sequence convergence between some of the remaining genes and their homologs from AT-rich plastid genomes of protists. Overall, the plastid genome of R. phalloides is one of the most unusual plastid genomes known.

1. What are viruses?

2018 ◽  
pp. 2-16
Author(s):  
Dorothy H. Crawford
Keyword(s):  
Electron Microscope ◽  
Mutation Rate ◽  
Molecular Clock ◽  
Antiviral Drugs ◽  
High Mutation Rate ◽  
Virus Identification ◽  
Obligate Parasites ◽  
Protein Coat ◽  
A Cell

‘What are viruses?’ introduces viruses and their structure. Martinus Beijerinck, in 1898, was the first to coin the term ‘virus’, and invention of the electron microscope in the late 1930s greatly enhanced virus identification. Viruses are not cells, but obligate parasites that must infect a cell and use its organelles in order to reproduce. They carry either DNA or RNA, and have a protein coat called a capsid. The whole structure is called a virion. Viruses have a high mutation rate, which helps them to survive and boost their resistance to antiviral drugs. The molecular clock technique to track a virus’s history is also explained.

204. Isolation of CAG repeat containing genes from human placenta and decidua

2005 ◽  
Vol 17 (9) ◽  
pp. 77
Author(s):  
K. A. Freed ◽  
S. P. Brennecke ◽  
E. K. Moses
Keyword(s):  
Mutation Rate ◽  
Dna Sequences ◽  
Human Placenta ◽  
Trinucleotide Repeat ◽  
Normal Population ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
High Mutation Rate ◽  
Strong Negative Selection ◽  
Expansion Mutation

Pre-eclampsia is a serious disorder of pregnancy that manifests clinically in the mother as new-onset hypertension and proteinuria. Although the precise cause remains unknown, the placenta and the decidua play a fundamental role. The worldwide incidence of pre-eclampsia is 2–5% and such a high incidence, in the face of strong negative selection, suggests that the gene(s) involved have a selective advantage and/or a high mutation rate. One class of genetic diseases that involve a high mutation rate are the trinucleotide repeat expansion diseases. In these diseases repeated trinucleotide DNA sequences within specific genes multiply or expand up to 1000-fold. The result of this gene expansion/mutation is altered gene function that confers genetic susceptibility. Thus, the overall objective of this study was to determine whether there is an association between a trinucleotide (CAG) repeat expansion and pre-eclampsia. The specific aim of this study was to isolate CAG repeat containing genes from human placenta and decidua. An adaptation of the mRNA differential display technique and traditional cDNA library screening was used. In total, 72 placental and 51 decidual sequences were analyzed using the BLAST nucleotide comparison program. Five cDNAs were analyzed further. The unique sequences surrounding the CAG repeat regions of these five genes will be used to generate primers to ascertain if any of these repeat DNA sequences vary in number in the normal population. If polymorphic genes are identified, the primers will be used on pre-eclamptic pedigrees to determine if pre-eclampsia is associated with a repeat expansion mutation.

High prevalence of the Fra(X) syndrome cannot be explained by a high mutation rate

1992 ◽  
Vol 43 (1-2) ◽  
pp. 345-352 ◽  
Author(s):  
Arie Smits ◽  
Dominique Smeets ◽  
Ben Hamel ◽  
Jos Dreesen ◽  
Bernard van Oost
Keyword(s):  
Mutation Rate ◽  
High Mutation Rate ◽  
High Prevalence

scholarly journals ANALISA EVOLUSI VIRUS DENGUE YANG ENDEMIK DI INDONESIA

2019 ◽  
Vol 3 (1) ◽  
pp. 91
Author(s):  
Erick Sidarta ◽  
Sari Mariyati Dewi ◽  
Arlends Chris
Keyword(s):  
Virus Infection ◽  
Dengue Virus ◽  
Mutation Rate ◽  
High Mutation Rate ◽  
Escape Mutant ◽  
Dengue Vaccine ◽  
M Gene ◽  
Dengue Virus Infection ◽  
Dengue Viruses ◽  
Virus Genotypes

Indonesia merupakan daerah dengan hiperendemisitas tinggi untuk infeksi virus dengue dan tempat bersirkulasinya keempat varian genotype virus dengue. Saat ini salah satu cara untuk pencegahan infeksi virus dengue adalah dengan vaksin dengue yang baru tersedia tahun 2016. Vaksin dengue ini menstimulasi terbentuknya antibodi yang akan mengenali membran dan selubung dari keempat genotipe virus dengue. Efektivitas dari vaksin ini tergantung dari kesesuaian antara antibodi yang terbentuk dengan varian yang beredar di Indonesia. Mengingat virus dengue merupakan virus RNA yang umumnya memiliki laju mutasi yang tinggi, mutasi yang terjadi dapat mengakibatkan terbentuknya escape mutant yang mampu menghindari antibodi yang terbentuk oleh vaksin. Penelitian ini bertujuan untuk mengetahui evolusi dan laju mutasi dari virus dengue yang beredar di Indonesia. Sebanyak 116 data genom lengkap dari virus dengue yang telah dilaporkan di Indonesia digunakan dalam penelitian ini. Genotipe virus dengue dianalisa dengan menggunakan software MEGA-X. Evolusi dan laju mutasi dari gen penyandi selubung (E) dan membran (M) virus dengue dianalisa dengan menggunakan software BEAST versi 1.8.3. Hasil dari penelitian ini menunjukkan gen E dan M virus dengue telah berevolusi semenjak pertama kali dilaporkan pada tahun 1975 dan memiliki laju mutasi yang tinggi. Gen E mencapai  9.26 x 10-4 subsitusi/basa/tahun (95% HPD 7.81 X 10 10-4 – 1.07 X 10-3) maupun gen M yang mencapai 8.5 x 10-4 subsitusi/basa/tahun (95% HPD 6.03 X 10 10-4 – 1.09 X 10-3). Tingginya laju mutasi ini membutuhkan perhatian bagi pengembang vaksin untuk pengawasan dan evaluasi yang berkesinambungan. Indonesia is an area with high hyperendemicity for dengue virus infection and the circulation of the four variants of dengue virus genotype. Currently, one way to prevent dengue virus infection is with a new dengue vaccine available in 2016. This dengue vaccine stimulates the formation of antibodies that will recognize the membrane and envelope of the four dengue virus genotypes. The effectiveness of this vaccine depends on the suitability of the antibodies formed with variants circulating in Indonesia. Since dengue virus is an RNA virus that generally has a high mutation rate, the mutations that occur can result in the formation of escape mutants that are able to avoid the antibodies formed by the vaccine. This study aims to determine the evolution and mutation rate of dengue viruses circulating in Indonesia. A total of 116 complete genome data from dengue viruses that have been reported in Indonesia were used in this study. Dengue virus genotypes were analyzed using MEGA-X software. The evolution and mutation rate of the envelope (E) and membrane (M) gene of the dengue virus were analyzed using BEAST software version 1.8.3. The results of this study indicate that the E and M genes of the dengue virus have evolved since they were first reported in 1975 and have a high mutation rate. Gen E reaches 9.26 x 10-4 substitution / base / year (95% HPD 7.81 X 10 10-4 - 1.07 X 10-3) and M gene reaches 8.5 x 10-4 substitution / base / year (95% HPD 6.03 X 10 10-4 - 1.09 X 10-3). The high rate of this mutation requires attention for vaccine developers for ongoing monitoring and evaluation.

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