4 research outputs found
The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability
Chromobacterium violaceum is one of millions of species of free-living microorganisms that populate the soil and water in the extant areas of tropical biodiversity around the world. Its complete genome sequence reveals (i) extensive alternative pathways for energy generation, (ii) ≈500 ORFs for transport-related proteins, (iii) complex and extensive systems for stress adaptation and motility, and (iv) wide-spread utilization of quorum sensing for control of inducible systems, all of which underpin the versatility and adaptability of the organism. The genome also contains extensive but incomplete arrays of ORFs coding for proteins associated with mammalian pathogenicity, possibly involved in the occasional but often fatal cases of human C. violaceum infection. There is, in addition, a series of previously unknown but important enzymes and secondary metabolites including paraquat-inducible proteins, drug and heavy-metal-resistance proteins, multiple chitinases, and proteins for the detoxification of xenobiotics that may have biotechnological applications
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
Abstract Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR‐210 in 46,XY DSD patients who presented atypical genitalia at birth. Methods Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR‐210 and reference miR‐23a were measured using RT‐qPCR and the data were analysed by the 2−ΔCt method. Results MiR‐210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR‐210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR‐210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR‐210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. Conclusion Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR‐210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD
WT1: A single gene associated with multiple and severe phenotypes
The Wilms tumor suppressor gene (WT1) is a transcription factor with a wide array of functions, that affects the differentiation and survival of several cell types in different organs. It plays a special role in renal and gonadal development, organs in which WT1 deleterious variants determine well-established conditions, such as Wilms tumor, corticosteroid-resistant nephropathy with progression to loss of renal function, and a spectrum of gonadal development abnormalities (XX and XY gonadal dysgenesis, XX testicular and XX ovotesticular) and testicular tumors. Moreover, WT1 variants are also associated with urinary tract malformations, heart and nervous system diseases, diaphragmatic hernias, leukemia, and tumorigenesis. Consequently, an increasingly broad phenotypic spectrum has been associated with WT1 deleterious variants in 46,XX, and 46,XY individuals. The genotype-phenotype causal relationship involving WT1 pathogenic variants and their heterogeneous clinical manifestations is also discussed.This review summarizes current knowledge regarding the clinical implications of WT1 disorders and highlights the importance of diagnosing deleterious variants of WT1 for the early identification of individuals at high risk of developing severe phenotypes, for the adequate planning of the therapeutic approach, and for familiar genetic counseling
NEOTROPICAL ALIEN MAMMALS: a data set of occurrence and abundance of alien mammals in the Neotropics
Biological invasion is one of the main threats to native biodiversity. For a species to become invasive, it must be voluntarily or involuntarily introduced by humans into a nonnative habitat. Mammals were among first taxa to be introduced worldwide for game, meat, and labor, yet the number of species introduced in the Neotropics remains unknown. In this data set, we make available occurrence and abundance data on mammal species that (1) transposed a geographical barrier and (2) were voluntarily or involuntarily introduced by humans into the Neotropics. Our data set is composed of 73,738 historical and current georeferenced records on alien mammal species of which around 96% correspond to occurrence data on 77 species belonging to eight orders and 26 families. Data cover 26 continental countries in the Neotropics, ranging from Mexico and its frontier regions (southern Florida and coastal-central Florida in the southeast United States) to Argentina, Paraguay, Chile, and Uruguay, and the 13 countries of Caribbean islands. Our data set also includes neotropical species (e.g., Callithrix sp., Myocastor coypus, Nasua nasua) considered alien in particular areas of Neotropics. The most numerous species in terms of records are from Bos sp. (n = 37,782), Sus scrofa (n = 6,730), and Canis familiaris (n = 10,084); 17 species were represented by only one record (e.g., Syncerus caffer, Cervus timorensis, Cervus unicolor, Canis latrans). Primates have the highest number of species in the data set (n = 20 species), partly because of uncertainties regarding taxonomic identification of the genera Callithrix, which includes the species Callithrix aurita, Callithrix flaviceps, Callithrix geoffroyi, Callithrix jacchus, Callithrix kuhlii, Callithrix penicillata, and their hybrids. This unique data set will be a valuable source of information on invasion risk assessments, biodiversity redistribution and conservation-related research. There are no copyright restrictions. Please cite this data paper when using the data in publications. We also request that researchers and teachers inform us on how they are using the data