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1.
Curr Issues Mol Biol ; 45(4): 2965-2971, 2023 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-37185718

RESUMEN

Alopecia Areata (AA) is a multifactorial, dermatological disease characterized by non-scarring hair loss. Alterations in candidate genes, such as HR (Hairless), could represent a risk factor for its development. The aim of this study was to search for and analyze variants in exons 3, 15 and 17 of the HR gene in Mexican patients with AA. A total of 30 samples from both AA patients and healthy donors were analyzed in this study. Exons were amplified and sequenced using the Sanger method. Descriptive statistics and χ2 tests were used in the analysis of clinical-demographic characteristics and the comparison of allelic/genotypical frequencies between groups, respectively. The effect on protein function for the non-synonymous variants was determined with three bioinformatics servers. Three gene variants were identified in the HR gene of the evaluated patients. The benign polymorphism c.1010G > A p.(Gly337Asp) (rs12675375) had been previously reported, whereas the variants c.750G > A p.(Gln250Gln) and c.3215T > A (Val1072AGlu) have not been described in other world populations. Both non-synonymous variants proved to be significant (p ≤ 0.05). The variant c.3215T > A p.(Val1072Glu) is of particular interest due to its deleterious effect on the structure and function of the protein; therefore, it could be considered a risk factor for the development of AA.

2.
Microorganisms ; 9(1)2021 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-33477474

RESUMEN

Vibrio mimicus is an emerging pathogen, mainly associated with contaminated seafood consumption. However, little is known about its evolution, biodiversity, and pathogenic potential. This study analyzes the pan-, core, and accessory genomes of nine V. mimicus strains. The core genome yielded 2424 genes in chromosome I (ChI) and 822 genes in chromosome II (ChII), with an accessory genome comprising an average of 10.9% of the whole genome for ChI and 29% for ChII. Core genome phylogenetic trees were obtained, and V. mimicus ATCC-33654 strain was the closest to the outgroup in both chromosomes. Additionally, a phylogenetic study of eight conserved genes (ftsZ, gapA, gyrB, topA, rpoA, recA, mreB, and pyrH), including Vibrio cholerae, Vibrio parilis, Vibrio metoecus, and Vibrio caribbenthicus, clearly showed clade differentiation. The main virulence genes found in ChI corresponded with type I secretion proteins, extracellular components, flagellar proteins, and potential regulators, while, in ChII, the main categories were type-I secretion proteins, chemotaxis proteins, and antibiotic resistance proteins. The accessory genome was characterized by the presence of mobile elements and toxin encoding genes in both chromosomes. Based on the genome atlas, it was possible to characterize differential regions between strains. The pan-genome of V. mimicus encompassed 3539 genes for ChI and 2355 genes for ChII. These results give us an insight into the virulence and gene content of V. mimicus, as well as constitute the first approach to its diversity.

3.
Arch Argent Pediatr ; 115(6): e404-e411, 2017 Dec 01.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29087123

RESUMEN

Alopecia areata (AA) is a dermatological disease characterized by non-scarring hair loss of the scalp and/or body, with an unpredictable and variable evolution in the patients in which, despite multidisciplinary efforts, its etiology is not entirely known, although some evidence suggests that environmental, immunological and genetic factors could be generating the disease. The aim of this review is to provide an updated panorama of the clinical characteristics, diagnosis and treatment of AA, to analyze the mechanisms that could participate in its etiology, as well as to review some of the most important genetic variants that could confer susceptibility to the development of this disease.


La alopecia areata es un padecimiento dermatológico caracterizado por la pérdida de pelo no cicatricial del cuero cabelludo y/o del cuerpo, con una evolución impredecible y variable en los pacientes. A pesar de esfuerzos multidisciplinarios, su etiología sigue sin conocerse con exactitud, aunque algunas evidencias sugieren que factores ambientales, inmunológicos y genéticos podrían estar originando la enfermedad. El objetivo de esta revisión consiste en dar un panorama actual de las características clínicas, diagnóstico y tratamiento de la alopecia areata, analizar los mecanismos que podrían participar en su etiología, así como revisar algunas de las variantes génicas más importantes, que podrían conferir susceptibilidad al desarrollo de la enfermedad.


Asunto(s)
Alopecia Areata , Adolescente , Alopecia Areata/diagnóstico , Alopecia Areata/epidemiología , Alopecia Areata/etiología , Alopecia Areata/terapia , Niño , Preescolar , Femenino , Humanos , Masculino , Pronóstico
4.
PLoS One ; 11(1): e0144885, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26730584

RESUMEN

Vibrio mimicus is a gram-negative bacterium responsible for diseases in humans. Three strains of V. mimicus identified as V. mimicus 87, V. mimicus 92 and V. mimicus 93 were isolated from a shrimp processing facility in Guaymas, Sonora, Mexico. The strains were analyzed using several molecular techniques and according to the cluster analysis they were different, their similarities ranged between 51.3% and 71.6%. ERIC-PCR and RAPD (vmh390R) were the most discriminatory molecular techniques for the differentiation of these strains. The complete genomes of two strains (V. mimicus 87, renamed as CAIM 1882, and V. mimicus 92, renamed as CAIM 1883) were sequenced. The sizes of the genomes were 3.9 Mb in both strains, with 2.8 Mb in ChI and 1.1 Mb in ChII. A 12.7% difference was found in the proteome content (BLAST matrix). Several virulence genes were detected (e.g. capsular polysaccharide, an accessory colonization factor and genes involved in quorum-sensing) which were classified in 16 categories. Variations in the gene content between these genomes were observed, mainly in proteins and virulence genes (e.g., hemagglutinin, mobile elements and membrane proteins). According to these results, both strains were different, even when they came from the same source, giving an insight of the diversity of V. mimicus. The identification of various virulence genes, including a not previously reported V. mimicus gene (acfD) in ChI in all sequenced strains, supports the pathogenic potential of this species. Further analysis will help to fully understand their potential virulence, environmental impact and evolution.


Asunto(s)
Manipulación de Alimentos , Microbiología de Alimentos , Penaeidae/microbiología , Vibrio mimicus/aislamiento & purificación , Microbiología del Agua , Animales , Proteínas Bacterianas/genética , Técnicas de Tipificación Bacteriana , Dermatoglifia del ADN/métodos , ADN Bacteriano/análisis , ADN Bacteriano/genética , Contaminación de Alimentos , Congelación , Genes Bacterianos , Proteínas Hemolisinas/genética , México , Técnica del ADN Polimorfo Amplificado Aleatorio , Ribotipificación , Alineación de Secuencia , Análisis de Secuencia de ADN , Especificidad de la Especie , Vibrio mimicus/clasificación , Vibrio mimicus/genética , Vibrio mimicus/patogenicidad , Virulencia/genética
5.
Genome Announc ; 1(2): e0008413, 2013 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-23516211

RESUMEN

Vibrio mimicus is a Gram-negative bacterium associated with gastrointestinal diseases in humans around the world. We report the complete genome sequence of the Vibrio mimicus strain CAIM 602(T) (CDC1721-77, LMG 7896(T), ATCC 33653(T)).

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