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

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• Comparative single- cell analysis of transcriptional bursting reveals the role of genome organization in de novo transcript origination AI翻译
  作者：Lee, Unjin; Li, Cong; Langer, Christopher B.; Svetec, Nicolas; Zhao, Li
  作者单位：Rockefeller University
  摘要：Spermatogenesis is a key developmental process underlying the origination of newly evolved genes. However, rapid cell type-specific transcriptomic divergence of the Drosophila germline has posed a significant technical barrier for comparative single- cell RNA- sequencing studies. By quantifying a surprisingly strong correlation between species- and cell type-specific divergence in three closely related Drosophila species, we apply a statistical procedure to identify a core set of 198 genes tha...
• Conversion of social organization in fire ants induced by few colony members: Unmasking indirect genetic effects AI翻译
  作者：Zeng, Haolin; Ross, Kenneth G.; Sasaki, Takao
  作者单位：University System of Georgia; University of Georgia; University System of Georgia; University of Georgia; University of Rochester
  摘要：Genes and the environment jointly shape individual traits, but the influence of indirect genetic effects (IGEs), arising from the genetic composition of interacting conspecific individuals, is often ignored or underemphasized. Moreover, because of practical challenges in characterizing IGEs, empirical research has fallen behind theoretical advancement. The fire ant Solenopsis invicta offers a uniquely suitable study system due to its distinct colony- level phenotypic variation (monogyne and po...
• Neuronal autophagy controls excitability via ryanodine receptor-mediated regulation of calcium- activated potassium channel function AI翻译
  作者：Kochlamazashvili, Gaga; Swaminathan, Aarti; Stumpf, Alexander; Kumar, Amit; Posor, York; Schmitz, Dietmar; Haucke, Volker; Kuijpers, Marijn
  作者单位：Leibniz Association; Leibniz Forschungsinstitut furr Molekulare Pharmakologie (FMP); Free University of Berlin; Humboldt University of Berlin; Charite Universitatsmedizin Berlin; Free University of Berlin; Humboldt University of Berlin; Humboldt University of Berlin; Free University of Berlin; Charite Universitatsmedizin Berlin; Berlin Institute of Health; Free University of Berlin; Radboud University Nijmegen; Radboud University Nijmegen
  摘要：Glutamate-mediated neuronal hyperexcitation plays a causative role in eliciting seizures and promoting epileptogenesis. Recent data suggest that altered autophagy can contribute to the occurrence of epilepsy. We examined the role of autophagy in neuronal physiology by generating knockout mice conditionally lacking the essential autophagy protein ATG5 in glutamatergic neurons. We demonstrate that conditional genetic blockade of neuronal autophagy results in action potential narrowing, axonal hy...
• Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B AI翻译
  作者：Iwasaki, Yorihiro; Reyes, Monica; Ryabets-Lienhard, Anna; Gales, Barbara; Linglart, Agnes; Miller, Danny E.; Salusky, Isidro B.; Bastepe, Murat; Juppner, Harald
  作者单位：Harvard University; Harvard University Medical Affiliates; Massachusetts General Hospital; Harvard University; Harvard Medical School; Kitano Hospital; Children's Hospital Los Angeles; University of Southern California; University of California System; University of California Los Angeles; University of California Los Angeles Medical Center; David Geffen School of Medicine at UCLA; Universite Paris Saclay; Institut National de la Sante et de la Recherche Medicale (Inserm); Assistance Publique Hopitaux Paris (APHP); Hopital Universitaire Antoine-Beclere - APHP; Hopital Universitaire Bicetre - APHP; Universite Paris Saclay; Seattle Children's Hospital; University of Washington; University of Washington Seattle; University of Washington; University of Washington Seattle; University of Washington; University of Washington Seattle; Harvard University; Harvard University Medical Affiliates; Massachusetts General Hospital
  摘要：Pseudohypoparathyroidism type 1B (PHP1B) is a multihormone resistance disorder caused by aberrant GNAS methylation. Characteristic epigenetic changes at GNAS differentially methylated regions (DMRs), i.e., NESP, AS1, AS2, XL, and A/B, are associated with specific structural defects in different autosomal dominant PHP1B (AD-PHP1B) subtypes. However, mechanisms underlying abnormal GNAS methylation remain incompletely defined, largely because viable PHP1B mouse models are lacking. Using lymphobla...
• The pentameric chloride channel BEST1 is activated by extracellular GABA AI翻译
  作者：Pant, Swati; Tam, Stephanie W.; Long, Stephen B.
  作者单位：Memorial Sloan Kettering Cancer Center; Cornell University; Weill Cornell Medicine; Cornell University; Weill Cornell Medicine
  摘要：Bestrophin-1 (BEST1) is a chloride channel expressed in the eye and other tissues of the body. A link between BEST1 and the principal inhibitory neurotransmitter gamma- aminobutyric acid (GABA) has been proposed. The most appreciated receptors for extracellular GABA are the GABAB G-protein-coupled receptors and the pentameric GABAA chloride channels, both of which have fundamental roles in the central nervous system. Here, we demonstrate that BEST1 is directly activated by GABA. Through functi...
• CB-1 receptor agonist drastically changes oscillatory activity, defining active sleep AI翻译
  作者：Topchiy, Irina; Kocsis, Bernat
  作者单位：Harvard University; Harvard University Medical Affiliates; Beth Israel Deaconess Medical Center; Harvard Medical School; Harvard University; Harvard University Medical Affiliates; McLean Hospital
  摘要：Brain oscillations in different behavioral states are essential for cognition, and oscillopathies contribute to cognitive dysfunction in neuropsychiatric diseases. Cannabis-1 receptor (CB1-R) activation was reported to suppress theta and fast gamma activities in rats during waking exploration, and here, we show that cannabis fundamentally alters network activity during sleep as well. Prominent theta rhythm is present in rapid eye movement sleep (REMS), whereas fast oscillations appear as regul...
• DprA recruits ComM to facilitate recombination during natural transformation in Gram- negative bacteria AI翻译
  作者：Dalia, Triana N.; Machouri, Merick; Lacrouts, Celine; Fauconnet, Yoann; Guerois, Raphael; Andreani, Jessica; Radicella, J. Pablo; Dalia, Ankur B.
  作者单位：Indiana University System; Indiana University Bloomington; Universite Paris Saclay; CEA; Universite Paris Cite; Universite Paris Cite; CEA; Universite Paris Saclay; Centre National de la Recherche Scientifique (CNRS); CEA
  摘要：Natural transformation (NT) represents one of the major modes of horizontal gene transfer in bacterial species. During NT, cells can take up free DNA from the environment and integrate it into their genome by homologous recombination. While NT has been studied for >90 y, the molecular details underlying this recombination remain poorly understood. Recent work has demonstrated that ComM is an NT-specific hexameric helicase that promotes recombinational branch migration in Gram-negative bacteria...
• Bourbon and Mycbp function with Otu to promote Sxl protein expression in the Drosophila female germline AI翻译
  作者：Mercer, Marianne; Dasgupta, Anirban; Pawlowski, Krzysztof; Buszczak, Michael
  作者单位：University of Texas System; University of Texas Southwestern Medical Center; University of Texas System; University of Texas Southwestern Medical Center; Howard Hughes Medical Institute
  摘要：In Drosophila ovaries, germ cells differentiate through several stages of cyst development before entering meiosis. This early differentiation program depends on both the stepwise deployment of specific regulatory mechanisms and on maintenance of germline sexual identity. The study of female sterile mutations that result in formation of germ cell tumors has been invaluable in identifying the mechanisms that control these developmental events. Here, we characterize the germ cell-enriched gene b...
• Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology AI翻译
  作者：Saito, Akiko; Nagayama, Kazuaki; Okada, Hiroyuki; Onodera, Shoko; Aida, Natsuko; Nakamura, Takashi; Sawada, Takashi; Hojo, Hironori; Kato, Shigeaki; Azuma, Toshifumi
  作者单位：Tokyo Dental College; Tokyo Dental College; Ibaraki University; University of Tokyo; University of Tokyo; Tokyo Dental College; Iryo Sosei University
  摘要：Runx2 is a master regulator of bone formation, and its dysfunction causes cleidocranial dysplasia (CCD) in humans. When iPS cells were generated from patients with CCD and Runx2-deficient iPS cells were generated using gene-editing techniques, abnormal laminopathy-like nuclei were observed. Runx2-deficient cells showed reduced Lamin A/C expression, but not protein levels. However, in Runx2-deficient cells, both the gene expression and protein levels of Nesprin1 were reduced, perinuclear actin ...
• Quirks of cognition explain why we dramatically overestimate the size of minority groups AI翻译
  作者：Guay, Brian; Marghetis, Tyler; Wong, Cara; Landy, David
  作者单位：State University of New York (SUNY) System; Stony Brook University; University of California System; University of California Merced; University of Illinois System; University of Illinois Urbana-Champaign; Netflix, Inc.; Indiana University System; Indiana University Bloomington
  摘要：Americans dramatically overestimate the size of African American, Latino, Muslim, Asian, Jewish, immigrant, and LGBTQ populations, leading to concerns about downstream racial attitudes and policy preferences. Such errors are common whenever the public is asked to estimate proportions relevant to political issues, from refugee crises and polarization to climate change and COVID-19. Researchers across the social sciences interpret these errors as evidence of widespread misinformation that is top...