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Article ; Online: Selection-driven trait loss in independently evolved cavefish populations.

Moran, Rachel L / Richards, Emilie J / Ornelas-García, Claudia Patricia / Gross, Joshua B / Donny, Alexandra / Wiese, Jonathan / Keene, Alex C / Kowalko, Johanna E / Rohner, Nicolas / McGaugh, Suzanne E

Nature communications

2023 Volume 14, Issue 1, Page(s) 2557

Abstract: Laboratory studies have demonstrated that a single phenotype can be produced by many different genotypes; however, in natural systems, it is frequently found that phenotypic convergence is due to parallel genetic changes. This suggests a substantial role ...

Abstract	Laboratory studies have demonstrated that a single phenotype can be produced by many different genotypes; however, in natural systems, it is frequently found that phenotypic convergence is due to parallel genetic changes. This suggests a substantial role for constraint and determinism in evolution and indicates that certain mutations are more likely to contribute to phenotypic evolution. Here we use whole genome resequencing in the Mexican tetra, Astyanax mexicanus, to investigate how selection has shaped the repeated evolution of both trait loss and enhancement across independent cavefish lineages. We show that selection on standing genetic variation and de novo mutations both contribute substantially to repeated adaptation. Our findings provide empirical support for the hypothesis that genes with larger mutational targets are more likely to be the substrate of repeated evolution and indicate that features of the cave environment may impact the rate at which mutations occur.
MeSH term(s)	Animals ; Characidae/genetics ; Mutation ; Phenotype ; Adaptation, Physiological/genetics ; Genotype ; Biological Evolution ; Caves
Language	English
Publishing date	2023-05-03
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-37909-8
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Article ; Online: Genetic mapping of craniofacial traits in the Mexican tetra reveals loci associated with bite differences between cave and surface fish.

Powers, Amanda K / Hyacinthe, Carole / Riddle, Misty R / Kim, Young Kwang / Amaismeier, Alleigh / Thiel, Kathryn / Martineau, Brian / Ferrante, Emma / Moran, Rachel L / McGaugh, Suzanne E / Boggs, Tyler E / Gross, Joshua B / Tabin, Clifford J

BMC ecology and evolution

2023 Volume 23, Issue 1, Page(s) 41

Abstract: Background: The Mexican tetra, Astyanax mexicanus, includes interfertile surface-dwelling and cave-dwelling morphs, enabling powerful studies aimed at uncovering genes involved in the evolution of cave-associated traits. Compared to surface fish, ... ...

Abstract	Background: The Mexican tetra, Astyanax mexicanus, includes interfertile surface-dwelling and cave-dwelling morphs, enabling powerful studies aimed at uncovering genes involved in the evolution of cave-associated traits. Compared to surface fish, cavefish harbor several extreme traits within their skull, such as a protruding lower jaw, a wider gape, and an increase in tooth number. These features are highly variable between individual cavefish and even across different cavefish populations. Results: To investigate these traits, we created a novel feeding behavior assay wherein bite impressions could be obtained. We determined that fish with an underbite leave larger bite impressions with an increase in the number of tooth marks. Capitalizing on the ability to produce hybrids from surface and cavefish crosses, we investigated genes underlying these segregating orofacial traits by performing Quantitative Trait Loci (QTL) analysis with F Conclusions: This work highlights cavefish as a valuable genetic model for orofacial patterning and will provide insight into the genetic regulators of jaw and tooth development.
MeSH term(s)	Animals ; Malocclusion, Angle Class III ; Fishes ; Chromosome Mapping ; Skull ; Quantitative Trait Loci/genetics
Language	English
Publishing date	2023-08-25
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ISSN	2730-7182
ISSN (online)	2730-7182
DOI	10.1186/s12862-023-02149-3
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Article ; Online: Phylogeographic relationships and morphological evolution between cave and surface Astyanax mexicanus populations (De Filippi 1853) (Actinopterygii, Characidae).

Garduño-Sánchez, Marco / Hernández-Lozano, Jorge / Moran, Rachel L / Miranda-Gamboa, Ramsés / Gross, Joshua B / Rohner, Nicolas / Elliott, William R / Miller, Jeff / Lozano-Vilano, Lourdes / McGaugh, Suzanne E / Ornelas-García, C Patricia

Molecular ecology

2023 Volume 32, Issue 20, Page(s) 5626–5644

Abstract: The Astyanax mexicanus complex includes two different morphs, a surface- and a cave-adapted ecotype, found at three mountain ranges in Northeastern Mexico: Sierra de El Abra, Sierra de Guatemala and Sierra de la Colmena (Micos). Since their discovery, ... ...

Abstract	The Astyanax mexicanus complex includes two different morphs, a surface- and a cave-adapted ecotype, found at three mountain ranges in Northeastern Mexico: Sierra de El Abra, Sierra de Guatemala and Sierra de la Colmena (Micos). Since their discovery, multiple studies have attempted to characterize the timing and the number of events that gave rise to the evolution of these cave-adapted ecotypes. Here, using RADseq and genome-wide sequencing, we assessed the phylogenetic relationships, genetic structure and gene flow events between the cave and surface Astyanax mexicanus populations, to estimate the tempo and mode of evolution of the cave-adapted ecotypes. We also evaluated the body shape evolution across different cave lineages using geometric morphometrics to examine the role of phylogenetic signal versus environmental pressures. We found strong evidence of parallel evolution of cave-adapted ecotypes derived from two separate lineages of surface fish and hypothesize that there may be up to four independent invasions of caves from surface fish. Moreover, a strong congruence between the genetic structure and geographic distribution was observed across the cave populations, with the Sierra de Guatemala the region exhibiting most genetic drift among the cave populations analysed. Interestingly, we found no evidence of phylogenetic signal in body shape evolution, but we found support for parallel evolution in body shape across independent cave lineages, with cavefish from the Sierra de El Abra reflecting the most divergent morphology relative to surface and other cavefish populations.
Language	English
Publishing date	2023-09-15
Publishing country	England
Document type	Journal Article
ZDB-ID	1126687-9
ISSN	1365-294X ; 0962-1083
ISSN (online)	1365-294X
ISSN	0962-1083
DOI	10.1111/mec.17128
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Article: Feasibility and Preliminary Efficacy of Isradipine During Outpatient Buprenorphine Stabilization and Detoxification: A Pilot Randomized, Placebo-Controlled Trial.

Kumar, Nihit / Mancino, Michael J / Thostenson, Jeff D / McGaugh, Janette / Oliveto, Alison H

Substance abuse : research and treatment

2020 Volume 14, Page(s) 1178221820970926

Abstract: ... disorder is crucial. This pilot study examined the feasibility and preliminary efficacy of the L-type ...

Abstract	Background: Given the immense burden of the widespread use of opioids around the world, exploring treatments that improve drug use outcomes, and craving and withdrawal measures in individuals with opioid use disorder is crucial. This pilot study examined the feasibility and preliminary efficacy of the L-type calcium-channel blocker isradipine (ISR) to improve drug use outcomes, and craving and withdrawal measures during buprenorphine (BUP)/ISR stabilization and subsequent taper in opioid-dependent individuals. Methods: Participants were stabilized on BUP sublingual tablets within the first 2 days of week 1, were then randomized and inducted on either ISR or placebo, gradually increasing the dose over the next 2 weeks, followed by a 10-day BUP taper during weeks 5-6, and ISR/placebo taper during weeks 7 to 8. Assessments included thrice-weekly measures of craving and withdrawal, as well as vital signs and urine drug screens. Medication compliance was assessed by monitoring number of missed clinic visit days. Results: Baseline characteristics of participants (n = 25; 60% male, 96% Caucasian, 48% employed, mean age 32.8 years) did not differ significantly between treatment groups (isradipine, n = 11; placebo, n = 14). During the stabilization phase (n = 19), ISR participants had significantly lower rates of illicit opioid-positive urines (treatment × visit: Conclusions: This study was likely underpowered due to being a pilot trial. Although preliminary results suggest ISR may improve BUP-assisted treatment outcomes, concerns about high number of exclusions (n = 11 during taper phase) based on cardiovascular measures as well as ISR-induced changes in vital signs with the immediate release formulation may limit the feasibility of this approach. Trial registration: Clinicaltrials.gov identifier NCT01895270. Registered 10 July 2013, https://clinicaltrials.gov/ct2/show/NCT01895270?id=NCT01895270&draw=2&rank=1.
Language	English
Publishing date	2020-11-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	1458030-5
ISSN	1547-0164 ; 1178-2218 ; 0889-7077
ISSN (online)	1547-0164
ISSN	1178-2218 ; 0889-7077
DOI	10.1177/1178221820970926
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Article ; Online: Basolateral amygdala activation enhances object recognition memory by inhibiting anterior insular cortex activity.

Chen, Yan-Fen / Song, Qi / Colucci, Paola / Maltese, Federica / Siller-Pérez, Cristina / Prins, Karina / McGaugh, James L / Hermans, Erno J / Campolongo, Patrizia / Nadif Kasri, Nael / Roozendaal, Benno

Proceedings of the National Academy of Sciences of the United States of America

2022 Volume 119, Issue 22, Page(s) e2203680119

Abstract: Noradrenergic activation of the basolateral amygdala (BLA) by emotional arousal enhances different forms of recognition memory via functional interactions with the insular cortex (IC). Human neuroimaging studies have revealed that the anterior IC (aIC), ... ...

Abstract	Noradrenergic activation of the basolateral amygdala (BLA) by emotional arousal enhances different forms of recognition memory via functional interactions with the insular cortex (IC). Human neuroimaging studies have revealed that the anterior IC (aIC), as part of the salience network, is dynamically regulated during arousing situations. Emotional stimulation first rapidly increases aIC activity but suppresses it in a delayed fashion. Here, we investigated in male Sprague-Dawley rats whether the BLA influence on recognition memory is associated with an increase or suppression of aIC activity during the postlearning consolidation period. We first employed anterograde and retrograde viral tracing and found that the BLA sends dense monosynaptic projections to the aIC. Memory-enhancing norepinephrine administration into the BLA following an object training experience suppressed aIC activity 1 h later, as determined by a reduced expression of the phosphorylated form of the transcription factor cAMP response element-binding (pCREB) protein and neuronal activity marker c-Fos. In contrast, the number of perisomatic γ-aminobutyric acid (GABA)ergic inhibitory synapses per pCREB-positive neuron was significantly increased, suggesting a dynamic up-regulation of GABAergic tone. In support of this possibility, pharmacological inhibition of aIC activity with a GABAergic agonist during consolidation enhanced object recognition memory. Norepinephrine administration into the BLA did not affect neuronal activity within the posterior IC, which receives sparse innervation from the BLA. The evidence that noradrenergic activation of the BLA enhances the consolidation of object recognition memory via a mechanism involving a suppression of aIC activity provides insight into the broader brain network dynamics underlying emotional regulation of memory.
MeSH term(s)	Animals ; Arousal ; Basolateral Nuclear Complex/drug effects ; Basolateral Nuclear Complex/physiology ; Cyclic AMP Response Element-Binding Protein/metabolism ; Emotions/drug effects ; Emotions/physiology ; GABA Agonists/pharmacology ; Insular Cortex/drug effects ; Insular Cortex/physiology ; Male ; Neural Inhibition/drug effects ; Neural Inhibition/physiology ; Norepinephrine/administration & dosage ; Norepinephrine/pharmacology ; Rats ; Rats, Sprague-Dawley ; Recognition, Psychology/drug effects ; Recognition, Psychology/physiology ; Visual Perception/physiology
Chemical Substances	Creb1 protein, rat ; Cyclic AMP Response Element-Binding Protein ; GABA Agonists ; Norepinephrine (X4W3ENH1CV)
Language	English
Publishing date	2022-05-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.2203680119
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Article ; Online: Stress and the regulation of memory: from basic mechanisms to clinical implications Neurobiology of Learning and Memory Special Issue.

de Quervain, Dominique J-F / McGaugh, James L

Neurobiology of learning and memory

2014 Volume 112, Page(s) 1

MeSH term(s)	Animals ; Humans ; Memory/physiology ; Stress, Psychological/physiopathology
Language	English
Publishing date	2014-07
Publishing country	United States
Document type	Editorial ; Introductory Journal Article
ZDB-ID	1223366-3
ISSN	1095-9564 ; 1074-7427
ISSN (online)	1095-9564
ISSN	1074-7427
DOI	10.1016/j.nlm.2014.04.011
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Article ; Online: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation.

Kong, Lingling / Hassinan, Cera W / Gerstner, Florian / Buettner, Jannik M / Petigrow, Jeffrey B / Valdivia, David O / Chan-Cortés, Michelle H / Mistri, Amy / Cao, Annie / McGaugh, Scott Alan / Denton, Madeline / Brown, Stephen / Ross, Joshua / Schwab, Markus H / Simon, Christian M / Sumner, Charlotte J

Acta neuropathologica communications

2023 Volume 11, Issue 1, Page(s) 53

Abstract: Intercellular communication between axons and Schwann cells is critical for attaining the complex morphological steps necessary for axon maturation. In the early onset motor neuron disease spinal muscular atrophy (SMA), many motor axons are not ... ...

Abstract	Intercellular communication between axons and Schwann cells is critical for attaining the complex morphological steps necessary for axon maturation. In the early onset motor neuron disease spinal muscular atrophy (SMA), many motor axons are not ensheathed by Schwann cells nor grow sufficiently in radial diameter to become myelinated. These developmentally arrested motor axons are dysfunctional and vulnerable to rapid degeneration, limiting efficacy of current SMA therapeutics. We hypothesized that accelerating SMA motor axon maturation would improve their function and reduce disease features. A principle regulator of peripheral axon development is neuregulin 1 type III (NRG1-III). Expressed on axon surfaces, it interacts with Schwann cell receptors to mediate axon ensheathment and myelination. We examined NRG1 mRNA and protein expression levels in human and mouse SMA tissues and observed reduced expression in SMA spinal cord and in ventral, but not dorsal root axons. To determine the impact of neuronal NRG1-III overexpression on SMA motor axon development, we bred NRG1-III overexpressing mice to SMA∆7 mice. Neonatally, elevated NRG1-III expression increased SMA ventral root size as well as axon segregation, diameter, and myelination resulting in improved motor axon conduction velocities. NRG1-III was not able to prevent distal axonal degeneration nor improve axon electrophysiology, motor behavior, or survival of older mice. Together these findings demonstrate that early SMA motor axon developmental impairments can be ameliorated by a molecular strategy independent of SMN replacement providing hope for future SMA combinatorial therapeutic approaches.
MeSH term(s)	Animals ; Humans ; Mice ; Axons/metabolism ; Motor Neurons/metabolism ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/metabolism ; Myelin Sheath/metabolism ; Neuregulin-1/genetics ; Neuregulin-1/metabolism
Chemical Substances	Neuregulin-1
Language	English
Publishing date	2023-03-30
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2715589-4
ISSN	2051-5960 ; 2051-5960
ISSN (online)	2051-5960
ISSN	2051-5960
DOI	10.1186/s40478-023-01551-8
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Article: A Longitudinal Analysis of SARS-CoV-2 Antibody Responses Among People With HIV.

Alcaide, Maria L / Nogueira, Nicholas F / Salazar, Ana S / Montgomerie, Emily K / Rodriguez, Violeta J / Raccamarich, Patricia D / Barreto, Irma T / McGaugh, Angela / Sharkey, Mark E / Mantero, Alejandro M / Rodriguez, Allan E / Beauchamps, Laura / Jones, Deborah L

Frontiers in medicine

2022 Volume 9, Page(s) 768138

Abstract: Background: The concentration and duration of antibodies (Ab) to SARS-CoV-2 infection predicts the severity of the disease and the clinical outcomes. Older people and those with HIV have impaired immune responses, worse outcomes after SARS-CoV-2 ... ...

Abstract	Background: The concentration and duration of antibodies (Ab) to SARS-CoV-2 infection predicts the severity of the disease and the clinical outcomes. Older people and those with HIV have impaired immune responses, worse outcomes after SARS-CoV-2 infection, and lower antibody responses after viral infection and vaccination. This study evaluated an Ab response to SARS-CoV-2 in people with HIV (PWH) and without HIV (HIV-) and its association with age. Methods: A total of 23 COVID+PWH and 21 COVID+HIV- participants were followed longitudinally for 6 months post-mild COVID-19. Immunoglobin G (IgG) and immunoglobin M (IgM) Ab responses were measured by an in-house developed ELISA. Time points and HIV status interaction were analyzed using Poisson generalized estimating equations, and correlations were analyzed using non-parametric tests. Results: Median age in PWH was 55 years with 28.6% women, while in the HIV- group was 36 years with 60.9% women. The mean time from COVID-19 diagnosis to study enrollment was 16 days for PWH and 11 days for HIV-. The mean CD4+ T-cell count/μl for PWH was 772.10 (±365.21). SARS-CoV-2 IgM and IgG were detected at all time points and Ab response levels did not differ by HIV status ( Conclusion: The Ab responses in the 6-month post-SARS-CoV-2 infection did not differ by HIV status, though a positive association was found between age and Ab response in older PWH. Results suggest that immune protection and vaccine responses are similar for PWH than for those without HIV infection.
Language	English
Publishing date	2022-03-07
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2775999-4
ISSN	2296-858X
ISSN	2296-858X
DOI	10.3389/fmed.2022.768138
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Article ; Online: Pleiotropic function of the oca2 gene underlies the evolution of sleep loss and albinism in cavefish.

O'Gorman, Morgan / Thakur, Sunishka / Imrie, Gillian / Moran, Rachel L / Choy, Stefan / Sifuentes-Romero, Itzel / Bilandžija, Helena / Renner, Kenneth J / Duboué, Erik / Rohner, Nicolas / McGaugh, Suzanne E / Keene, Alex C / Kowalko, Johanna E

Current biology : CB

2021 Volume 31, Issue 16, Page(s) 3694–3701.e4

Abstract: Adaptation to novel environments often involves the evolution of multiple morphological, physiological, and behavioral traits. One striking example of multi-trait evolution is the suite of traits that has evolved repeatedly in cave animals, including ... ...

Abstract	Adaptation to novel environments often involves the evolution of multiple morphological, physiological, and behavioral traits. One striking example of multi-trait evolution is the suite of traits that has evolved repeatedly in cave animals, including regression of eyes, loss of pigmentation, and enhancement of non-visual sensory systems.
MeSH term(s)	Albinism ; Animals ; Biological Evolution ; Characidae/genetics ; Eye ; Fish Proteins/genetics ; Pigmentation/genetics ; Sleep
Chemical Substances	Fish Proteins
Language	English
Publishing date	2021-07-21
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1071731-6
ISSN	1879-0445 ; 0960-9822
ISSN (online)	1879-0445
ISSN	0960-9822
DOI	10.1016/j.cub.2021.06.077
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Article ; Online: The limited role of differential fractionation in genome content variation and function in maize (Zea mays L.) inbred lines.

Brohammer, Alex B / Kono, Thomas J Y / Springer, Nathan M / McGaugh, Suzanne E / Hirsch, Candice N

The Plant journal : for cell and molecular biology

2018 Volume 93, Issue 1, Page(s) 131–141

Abstract: Maize is a diverse paleotetraploid species with considerable presence/absence variation and copy number variation. One mechanism through which presence/absence variation can arise is differential fractionation. Fractionation refers to the loss of ... ...

Abstract	Maize is a diverse paleotetraploid species with considerable presence/absence variation and copy number variation. One mechanism through which presence/absence variation can arise is differential fractionation. Fractionation refers to the loss of duplicate gene pairs from one of the maize subgenomes during diploidization. Differential fractionation refers to non-shared gene loss events between individuals following a whole-genome duplication event. We investigated the prevalence of presence/absence variation resulting from differential fractionation in the syntenic portion of the genome using two whole-genome de novo assemblies of the inbred lines B73 and PH207. Between these two genomes, syntenic genes were highly conserved with less than 1% of syntenic genes being subject to differential fractionation. The few variably fractionated syntenic genes that were identified are unlikely to contribute to functional phenotypic variation, as there is a significant depletion of these genes in annotated gene sets. In further comparisons of 60 diverse inbred lines, non-syntenic genes were six times more likely to be variable than syntenic genes, suggesting that comparisons among additional genome assemblies are not likely to result in the discovery of large-scale presence/absence variation among syntenic genes.
MeSH term(s)	DNA Copy Number Variations ; Genome, Plant/genetics ; Synteny ; Zea mays/genetics ; Zea mays/metabolism
Language	English
Publishing date	2018-01
Publishing country	England
Document type	Journal Article
ZDB-ID	1088037-9
ISSN	1365-313X ; 0960-7412
ISSN (online)	1365-313X
ISSN	0960-7412
DOI	10.1111/tpj.13765
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