Classification of miRNA-related sequence variations

Epigenomics ◽  
2018 ◽  
Vol 10 (4) ◽  
pp. 463-481 ◽  
Author(s):  
Karin Hrovatin ◽  
Tanja Kunej
2013 ◽  
Vol 133 (4) ◽  
pp. 463-469 ◽  
Author(s):  
A. Wojcicka ◽  
A. de la Chapelle ◽  
K. Jazdzewski

Author(s):  
Panagiotis Iosif ◽  
Nikolaos Stergioulas

Abstract We present equilibrium sequences of rotating relativistic stars, constructed with a new rotation law that was proposed by Uryu et al. (2017). We choose rotational parameters motivated by simulations of binary neutron star merger remnants, but otherwise adopt a cold, relativistic N = 1 polytropic EOS, in order to perform a detailed comparison to published equilibrium sequences that used the Komatsu, Eriguchi and Hachisu (1989) rotation law. We find a small influence of the choice of rotation law on the mass of the equilibrium models and a somewhat larger influence on their radius. The versatility of the new rotation law allows us to construct models that have a similar rotational profile and axial ratio as observed for merger remnants, while at the same time being quasi-spherical. More specifically, we construct equilibrium sequence variations with different degrees of differential rotation and identify type A and type C solutions, similar to the corresponding types in the classification of Ansorg, Gondek-Rosińska and Villain (2009). While our models are highly accurate solutions of the fully general relativistic structure equations, we demonstrate that for models relevant to merger remnants the IWM-CFC approximation still maintains an acceptable accuracy.


2016 ◽  
Vol 29 (5) ◽  
pp. 624-630 ◽  
Author(s):  
Jae-Hwan Kim ◽  
Seong-Su Lee ◽  
Seung Chang Kim ◽  
Seong-Bok Choi ◽  
Su-Hyun Kim ◽  
...  

2016 ◽  
Vol 11 (1) ◽  
pp. 142-150 ◽  
Author(s):  
Shamim Saleha ◽  
Taj Ali Khan ◽  
Shaista Zafar

AbstractOculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Viviane Corrêa Santos ◽  
Antonio Edson Rocha Oliveira ◽  
Augusto César Broilo Campos ◽  
João Luís Reis-Cunha ◽  
Daniella Castanheira Bartholomeu ◽  
...  

AbstractCruzipains are the main papain-like cysteine proteases of Trypanosoma cruzi, the protozoan parasite that causes Chagas disease. Encoded by a multigenic family, previous studies have estimated the presence of dozens of copies spread over multiple chromosomes in different parasite strains. Here, we describe the complete gene repertoire of cruzipain in three parasite strains, their genomic organization, and expression pattern throughout the parasite life cycle. Furthermore, we have analyzed primary sequence variations among distinct family members as well as structural differences between the main groups of cruzipains. Based on phylogenetic inferences and residue positions crucial for enzyme function and specificity, we propose the classification of cruzipains into two families (I and II), whose genes are distributed in two or three separate clusters in the parasite genome, according with the strain. Family I comprises nearly identical copies to the previously characterized cruzipain 1/cruzain, whereas Family II encompasses three structurally distinct sub-types, named cruzipain 2, cruzipain 3, and cruzipain 4. RNA-seq data derived from the CL Brener strain indicates that Family I genes are mainly expressed by epimastigotes, whereas trypomastigotes mainly express Family II genes. Significant differences in the active sites among the enzyme sub-types were also identified, which may play a role in their substrate selectivity and impact their inhibition by small molecules.


2021 ◽  
Author(s):  
Viviane Corrêa Santos ◽  
Antonio Edson Rocha Oliveira ◽  
Augusto César Broilo Campos ◽  
João Luís Reis-Cunha ◽  
Daniella Castanheira Bartholomeu ◽  
...  

Abstract Cruzipains are the main papain-like cysteine proteases of Trypanosoma cruzi, the protozoan parasite that causes Chagas disease. Encoded by a multigenic family, previous studies have estimated the presence of dozens of copies spread over multiple chromosomes in different parasite strains. Here, we describe the complete gene repertoire of cruzipain in three parasite strains, their genomic organization, and expression pattern throughout the parasite life cycle. Furthermore, we have analyzed primary sequence variations among distinct family members as well as structural differences between the main groups of cruzipains. Based on phylogenetic inferences and residue positions crucial for enzyme function and specificity, we propose the classification of cruzipains into two families (I and II), whose genes are distributed in two or three separate clusters in the parasite genome, according with the strain. Family I comprises nearly identical copies to the previously characterized cruzipain 1/cruzain, whereas Family II encompasses three structurally distinct sub-types, named cruzipain 2, cruzipain 3, and cruzipain 4. RNA-seq data derived from the CL Brener strain indicates that Family I genes are mainly expressed by epimastigotes, whereas trypomastigotes mainly express Family II genes. Significant differences in the active sites among the enzyme sub-types were also identified, which may play a role in their substrate selectivity and impact their inhibition by small molecules.


2017 ◽  
Vol 61 (7) ◽  
Author(s):  
Tengfei Zhang ◽  
Yiluo Cheng ◽  
Qingping Luo ◽  
Qin Lu ◽  
Jun Dong ◽  
...  

ABSTRACT Sequence analysis of 79 ciprofloxacin-resistant Campylobacter jejuni isolates collected in China showed resistance-related sequence variations in gyrA and CmeR-Box. All the isolates contain an identical Thr-86-Ile substitution in GyrA. Several novel CmeR-Box variations, including point substitutions, deletion, and insertion, were identified. The point insertion or deletion led to dramatically reduced binding of CmeR to the cmeABC promoter, which significantly increases the expression of cmeABC and contributes to the high fluoroquinolone resistance.


1993 ◽  
Vol 8 (S1) ◽  
pp. S70-S74
Author(s):  
H. HADA ◽  
N. KOIDE ◽  
T. HANAFUSA ◽  
H. TAKABATAKE ◽  
K. SAKAGUCHI ◽  
...  

1966 ◽  
Vol 24 ◽  
pp. 21-23
Author(s):  
Y. Fujita

We have investigated the spectrograms (dispersion: 8Å/mm) in the photographic infrared region fromλ7500 toλ9000 of some carbon stars obtained by the coudé spectrograph of the 74-inch reflector attached to the Okayama Astrophysical Observatory. The names of the stars investigated are listed in Table 1.


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