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Abstract Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, for recurrent predicted damaging sequence-level variants affecting single genes. We identified 18 individuals from 16 unrelated families carrying a heterozygous guanine duplication (c.3679dup; p.Ala1227Glyfs*69) occurring within a string of 8 guanines (genomic location [hg38]g.50,721,512dup) affecting SHANK3, a prototypical ASD gene (0.08% of ASD-affected individuals carried the predicted p.Ala1227Glyfs*69 frameshift variant). Most probands carried de novo mutations, but five individuals in three families inherited it through somatic mosaicism. We scrutinized the phenotype of p.Ala1227Glyfs*69 carriers, and while everyone (17/17) formally tested for ASD carried a diagnosis, there was the variable expression of core ASD features both within and between families. Defining such recurrent mutational mechanisms underlying an ASD outcome is important for genetic counseling and early intervention.

Since the last systematic review of Chiroderma (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 Chiroderma improvisum 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 Chiroderma trinitatum with respect to Chiroderma doriae. Cis-Andean populations of C. trinitatum are most closely related to the morphologically distinctive and allopatrically distributed C. doriae in the Cerrado and Atlantic Forest of Brazil and Paraguay. The sister taxon to this grouping includes trans-Andean populations of C. trinitatum, which we recommend to elevate to species status as C. gorgasi. This is an example of a cryptic species because C. gorgasi was previously considered morphologically similar to C. trinitatum, but more detailed examination revealed that it lacks a posterolabial accessory cusp on the lower second premolar and has a narrower breadth of the braincase. We provide an amended description of Chiroderma gorgasi.

Abstract 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 (Molossus molossus, M. coibensis, and M. milleri), which represent different ecological histories and geographical distributions in the genus. We tested the hypotheses that oceanic straits serve as barriers to dispersal in Caribbean bats and that isolated island populations are more likely to experience genetic drift and bottlenecks in comparison with highly connected ones, thus leading to different phylogeographic patterns. We show that population structures vary according to general habitat preferences, levels of population isolation, and historical fluctuations in climate. In our dataset, mainland geographic barriers played only a small role in isolation of lineages. However, oceanic straits posed a partial barrier to the dispersal for some populations within some species (M. milleri), but do not seem to disrupt gene flow in others (M. molossus). Lineages on distant islands undergo genetic bottlenecks more frequently than island lineages closer to the mainland, which have a greater exchange of haplotypes.

The mastiff bat Molossus is a broadly distributed genus within the family Molossidae. Molossus 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 Molossus based on the genotype by sequencing approach from 189 specimens of three species of New World mastiff bats (Molossus, Promops, and Eumops). We also present data on divergent tree topologies produced by alignments using de novo and reference genome approaches and distinct phylogenetic methods (maximum likelihood and coalescent approaches). These data provide the first highly resolved phylogenetic tree for Molossus, not recovered by previous studies using Sanger sequencing. Our dataset brings new insights on relationships among species and show how different approaches might affect phylogenetic resolution and topologies. Keywords: Next generation sequencing, Phylogeny, Molossidae, Evolution, Bats

Molossus 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 Molossus based on DNA barcodes of COI gene from 346 specimens of Molossus and its sister genus Promops and another New World molossid Eumops. Of these specimens, 50 are new sequences and 296 were obtained from GenBank. In addition, the nuclear gene beta fibrinogen was sequenced from a subset of 35 specimens. These data provide the basis for further exploration and understanding of the phylogenetic relationships of the genus Molossus (Loureiro et al., 2018) [1]. Keywords: Molossidae, Phylogenetics, Neotropics, Evolution

ABSTRACT We present an updated checklist of Brazilian bats, commenting on the endemic and threatened status of the species listed and providing information on recent taxonomic and nomenclatural changes. The bats of Brazil comprise 186 species, 68 genera, and nine families, with 13 species exclusive to the country. From the previous checklists, we add eight species to Brazil: Artibeus amplus, Choeroniscus godmani, Glossophaga bakeri, Lichonycteris obscura, Platyrrhinus guianensis, Trachops ehrhardti, Molossus melini and Myotis pampa. The latter is reported for the country for the first time in this study. The Brazilian list of threatened species includes three species as vulnerable (Furipterus horrens, Lonchophylla bokermanni, and Natalus macrourus) and Lonchophylla dekeyseri as endangered. The International Union for the Conservation of Nature (IUCN) lists Natalus macrourus as “near threatened”, and Lonchophylla bokermanni and L. dekeyseri as “endangered”. Twenty-two additional species are probable for the country. Compared to previous lists, five species are now considered doubtful records and 19 are considered erroneous records. We reinforce the importance of a continuous update of the bat checklists in all Brazilian states as well as taxonomic revisions and bat inventories in unsampled areas.