Publications by authors named "Livia O Loureiro"

Article Synopsis
  • Full understanding of autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS), highlighted by the latest Autism Speaks MSSNG resource that includes data from over 11,000 individuals.
  • The study found ASD-associated rare genetic variants in about 14% of individuals with ASD, examining data from MSSNG and the Simons Simplex Collection, which suggests similar prevalence in both datasets.
  • The identified variants were mostly nuclear (98%) with a small fraction being mitochondrial, and the research aims to help explore genetic links to ASD traits and identify causes for the 85% of ASD cases that currently lack identified genetic causes.
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Article Synopsis
  • - Autism Spectrum Disorder (ASD) is influenced by a complex array of genetic factors, with around 100 known copy number variants and genes associated with the condition, prompting researchers to explore specific damaging mutations in affected genes.
  • - The study identified a common mutation in the SHANK3 gene (c.3679dup; p.Ala1227Glyfs*69) present in 18 individuals from 16 families, which is found in about 0.08% of those with ASD, with many individuals having new mutations while some inherited it through somatic mosaicism.
  • - Analysis of individuals with the SHANK3 mutation revealed that all tested had an ASD diagnosis, but the expression of core ASD features varied significantly
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Over the past 30 years (the timespan of a generation), advances in genomics technologies have revealed tremendous and unexpected variation in the human genome and have provided increasingly accurate answers to long-standing questions of how much genetic variation exists in human populations and to what degree the DNA complement changes between parents and offspring. Tracking the characteristics of these inherited and spontaneous (or de novo) variations has been the basis of the study of human genetic disease. From genome-wide microarray and next-generation sequencing scans, we now know that each human genome contains over 3 million single nucleotide variants when compared with the ~ 3 billion base pairs in the human reference genome, along with roughly an order of magnitude more DNA-approximately 30 megabase pairs (Mb)-being 'structurally variable', mostly in the form of indels and copy number changes.

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Although many processes of diversification have been described to explain variation of morphological traits within clades that have obvious differentiation among taxa, not much is known about these patterns in complexes of cryptic species. Molossus is a genus of bats that is mainly Neotropical, occurring from the southeastern United States to southern Argentina, including the Caribbean islands. Molossus comprises some groups of species that are morphologically similar but phylogenetically divergent, and other groups of species that are genetically similar but morphologically distinct.

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Since the last systematic review of (big-eyed bats) more than two decades ago, we report on biodiversity surveys that expand the distribution and species diversity of this Neotropical genus. The Caribbean endemic species is documented for the first time from Nevis in the northern Lesser Antilles. A broader geographic sampling for a molecular analysis identifies a paraphyletic relationship in with respect to .

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The mastiff bat is a broadly distributed genus within the family Molossidae. includes groups of species that are either morphologically or genetically very similar, rendering the taxonomy of this genus confusing and unstable. In this paper, we provide inferred phylogenetic relationships of based on the genotype by sequencing approach from 189 specimens of three species of New World mastiff bats (, , and ).

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Historical events, habitat preferences, and geographic barriers might result in distinct genetic patterns in insular versus mainland populations. Comparison between these two biogeographic systems provides an opportunity to investigate the relative role of isolation in phylogeographic patterns and to elucidate the importance of evolution and demographic history in population structure. Herein, we use a genotype-by-sequencing approach (GBS) to explore population structure within three species of mastiff bats (, , and ), which represent different ecological histories and geographical distributions in the genus.

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Mammals are one of the better known groups of animals, and in the Neotropics bats typically comprise about half of the mammalian species diversity. But, well resolved species-level phylogenies are still lacking for most taxa of bats. One broadly distributed genus is the mastiff bats, Molossus.

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Bats are excellent models for studying the molecular basis of sensory adaptation. In Chiroptera, a sensory trade-off has been proposed between the visual and auditory systems, though the extent of this association has yet to be fully examined. To investigate whether variation in visual performance is associated with echolocation, we experimentally assayed the dim-light visual pigment rhodopsin from bat species with differing echolocation abilities.

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is one of the most diverse genera of free-tailed bats in the pantropical family Molossidae and occurs though all the Neotropics. Nevertheless, the taxonomy and phylogeny of this group is poorly understood. Here, we present the data on evolutionary relationships of based on DNA barcodes of COI gene from 346 specimens of and its sister genus and another New World molossid .

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Bats represent one of the largest and most striking nocturnal mammalian radiations, exhibiting many visual system specializations for performance in light-limited environments. Despite representing the greatest ecological diversity and species richness in Chiroptera, Neotropical lineages have been undersampled in molecular studies, limiting the potential for identifying signatures of selection on visual genes associated with differences in bat ecology. Here, we investigated how diverse ecological pressures mediate long-term shifts in selection upon long-wavelength () and short-wavelength () opsins, photosensitive cone pigments that form the basis of colour vision in most mammals, including bats.

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