scholarly journals A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

1999 ◽  
Vol 8 (7) ◽  
pp. 1177-1183 ◽  
Author(s):  
U. R. Monani
2013 ◽  
Vol 174 (1-2) ◽  
pp. 18-26 ◽  
Author(s):  
Chien-Chiao Huang ◽  
Tzer-Min Kuo ◽  
Chau-Ting Yeh ◽  
Cheng-po Hu ◽  
Ya-Ling Chen ◽  
...  

2006 ◽  
Vol 55 (12) ◽  
pp. 1661-1665 ◽  
Author(s):  
Kyung Ho Han ◽  
Seon Young Choi ◽  
Je Hee Lee ◽  
Hyejon Lee ◽  
Eun Hee Shin ◽  
...  

Salmonella enterica subspecies enterica serovar Paratyphi B [O1,4,(5),12 : Hb : 1,2] can cause either an enteric fever (paratyphoid fever) or self-limiting gastroenteritis in humans. The d-tartrate non-fermenting variant S. enterica subsp. enterica serovar Paratyphi B dT− (S. Paratyphi B) is the causative agent of paratyphoid fever, and the d-tartrate fermenting variant S. enterica subsp. enterica serovar Paratyphi B dT+ (S. Paratyphi B dT+; formerly called Salmonella Java) causes gastroenteritis. S. Java is currently recognized as an emerging problem worldwide. Twelve dT+ S. Java isolates were collected in Indonesia between 2000 and 2002. One-third of them contained Salmonella genomic island 1 (SGI1), which gives the multidrug-resistant phenotype to the bacteria. In this study, a PCR-based method to detect a single nucleotide difference responsible for the inability to ferment d-tartrate, reported elsewhere, was validated. The d-tartrate fermenting phenotype of S. Java was converted to the non-fermenting phenotype by the disruption of the ORF STM 3356, and the d-tartrate non-fermenting phenotype of the ORF STM 3356-disrupted strain and the dT− reference strain was changed to the dT+ phenotype by complementing ORF STM 3356 in trans. The results show that the dT+ phenotype requires a functional product encoded by STM 3356, and support the use of the PCR-based discrimination method for S. Paratyphi B and S. Java as the standard differentiation method.


2018 ◽  
Vol 54 (95) ◽  
pp. 13431-13434 ◽  
Author(s):  
Mengting Zhu ◽  
Zhaomei Sun ◽  
Zhen Zhang ◽  
Shusheng Zhang

Herein, a new finding is reported that 3D organic-nanoclusters (3DONs) with superior SERS properties as an original reporter could accurately and sensitively distinguish microRNAs (miRNAs) with highly similar sequences, even with a single-nucleotide difference.


2013 ◽  
Vol 19 (16) ◽  
pp. 5034-5040 ◽  
Author(s):  
Katsuhiko Matsumoto ◽  
Eiji Nakata ◽  
Tomoki Tamura ◽  
Isao Saito ◽  
Yasunori Aizawa ◽  
...  

2008 ◽  
Vol 95 (2) ◽  
pp. 729-737 ◽  
Author(s):  
Hsin-Chih Yeh ◽  
Christopher M. Puleo ◽  
Yi-Ping Ho ◽  
Vasudev J. Bailey ◽  
Teck Chuan Lim ◽  
...  

2021 ◽  
Vol 288 (1963) ◽  
Author(s):  
Bin Fan ◽  
Dizhi Xie ◽  
Yanwei Li ◽  
Xulei Wang ◽  
Xin Qi ◽  
...  

Teleosts show varied master sex determining (MSD) genes and sex determination (SD) mechanisms, with frequent turnovers of sex chromosomes. Tracing the origins of MSD genes and turnovers of sex chromosomes in a taxonomic group is of particular interest in evolutionary biology. Oyster pompano ( Trachinotus anak ), a marine fish, belongs to the family Carangidae, in which 17b-hydroxysteroid dehydrogenase 1 ( hsd17b1 ) has repeatedly evolved to an MSD gene. Whole-genome resequencing identified a single nucleotide polymorphism (SNP) at chromosome 24 to be strictly associated with phenotypic sex, with females being the heterozygous sex. This SNP is located in a splicing site at the first exon/intron boundary of hsd17b1 . The Z-linked SNP results in malfunction of all spliced isoforms, whereas the W-linked isoforms were predicted to have open reading frames that are conserved among vertebrates, suggesting that hsd17b1 is a female-determining gene. The differential alternative splicing patterns of ZZ and ZW genotypes were consistently observed both in undifferentiated stages and differentiated gonads. We observed elevated recombination around the SD locus and no differentiation between Z and W chromosomes. The extreme diversity of mutational mechanisms that hsd17b1 evolves to an MSD gene highlights frequent in situ turnovers between sex chromosomes in the Carangidae.


2007 ◽  
Vol 56 (5) ◽  
pp. 593-597 ◽  
Author(s):  
Jane F. Turton ◽  
Hilary Englender ◽  
Samantha N. Gabriel ◽  
Sarah E. Turton ◽  
Mary E. Kaufmann ◽  
...  

The magA gene was sought in hypermucoviscous isolates of Klebsiella spp., the Klebsiella K serotype reference strains and in isolates of the K1 serotype of Klebsiella pneumoniae from the UK, Hong Kong, Israel, Taiwan and Australia. Only K1 isolates were PCR positive for magA; this gene was found in all such isolates tested. Hypermucoviscosity was not confined to magA positive isolates, nor was it found in all magA positive isolates. Comparison of XbaI PFGE profiles revealed that most (19/23) of the magA positive isolates clustered within 72 % similarity, with a further subcluster of isolates, from three different continents, clustering within >80 %. All of the 16 isolates tested within the main cluster had the same sequence type (ST 23) by multilocus sequence typing, with the exception of one isolate, which had a single nucleotide difference at one of the seven loci. This study indicates that a genotype strongly associated with highly invasive disease in Taiwan, where large numbers of cases have been reported, is geographically very widespread.


ACS Sensors ◽  
2018 ◽  
Vol 3 (3) ◽  
pp. 606-611 ◽  
Author(s):  
Jean Cacheux ◽  
Marie Brut ◽  
Aurélien Bancaud ◽  
Pierre Cordelier ◽  
Thierry Leïchlé

Sign in / Sign up

Export Citation Format

Share Document