Red Clump Stars in the Sagittarius Tidal Streams

We have probed a section (l ~ 150, b ~ -60) of the trailing tidal arm of the Sagittarius dwarf spheroidal galaxy by identifying a sample of Red Clump stream stars. Red Clump stars are not generally found in the halo field, but are found in significant numbers in both the Sagittarius galaxy and its tidal streams, making them excellent probes of stream characteristics. Our target sample was selected using photometric data from the Sloan Digital Sky Survey, Data Release 6, which was constrained in color to match the Sagittarius Red Clump stars. Spectroscopic observations of the target stars were conducted at Kitt Peak National Observatory using the WIYN telescope. The resulting spectroscopic sample is magnitude limited and contains both main sequence disk stars and evolved Red Clump stars. We have developed a method to systematically separate these two stellar classes using kinematic information and a Bayesian approach for surface gravity determination. The resulting Red Clump sample allows us to determine an absolute stellar density of {\rho} = 2.7 +/- 0.5 RC stars kpc-3 at this location in the stream. Future measurements of stellar densities for a variety of populations and at various locations along the streams will lead to a much improved understanding of the original nature of the Sagittarius galaxy and the physical processes controlling its disruption and subsequent stream generation.Comment: 16 figures, 5 tables, accepted to A

A resonant feature near the Perseus arm revealed by red clump stars

We investigate the extinction together with the radial velocity dispersion and distribution of red clump stars in the anti-center direction using spectra obtained with Hectospec on the MMT. We find that extinction peaks at Galactocentric radii of about 9.5 and 12.5 kpc, right in front of the locations of the Perseus and Outer arms and in line with the relative position of dust and stars in external spiral galaxies. The radial velocity dispersion peaks around 10kpc, which coincides with the location of the Perseus arm, yields an estimated arm-interarm density contrast of 1.3-1.5 and is in agreement with previous studies. Finally, we discover that the radial velocity distribution bifurcates around 10-11 kpc into two peaks at +27 km/s and -4 km/s. This seems to be naturally explained by the presence of the outer Lindblad resonance of the Galactic bar, but further observations will be needed to understand if the corotation resonance of the spirals arms also plays a role.Comment: 8 pages, 2 figures, accepted for publication in ApJ

Modulation of the Blazhko Cycle in LS Her

We present analysis of the RR Lyrae star, LS Her and confirm the previously reported modulation to its Blazhko cycles. We performed Fourier analysis on two sectors (Sector 24 & 25) of data from the Transiting Exoplanet Survey Satellite (TESS) spanning 53 days. We find LS Her to have a primary pulsation period of 0.2308 d and a Blazhko period of 12.7 d in keeping with previously reported results. We also identified side-band frequencies around the Blazhko multiplets suggesting the Blazhko cycle is modulated on a time scale of 112 days. Analysis of the Blazhko effect using the TESS data clearly shows a changing amplitude and phase throughout the four Blazhko cycles. We compared our modeled results, which were based on our TESS frequency analysis, to TESS data (Sector 51) taken ~700 days later and found our modulation model was not a good representation of the data. We then coupled our TESS analysis with the modulation frequency results from Wils et al. (MNRAS 387 (2008) 783-787) and found excellent agreement with the Sector 51 data. To further test this result we obtained ground-based, V-magnitude observations of LS Her in the summer of 2022. This data also showed excellent agreement with our coupled modulation model. We have verified that LS Her is a Blazhko star with a modulated Blazhko period of 109 days, stability over the 862 days of observations, and possible stability lasting over 15 years. We discuss the ramifications of the modulation for other Blazhko stars that show Blazhko effect changes over time.Comment: 9 pages, 10 figure

Concentration or representation : the struggle for popular sovereignty

There is a tension in the notion of popular sovereignty, and the notion of democracy associated with it, that is both older than our terms for these notions themselves and more fundamental than the apparently consensual way we tend to use them today. After a review of the competing conceptions of 'the people' that underlie two very different understandings of democracy, this article will defend what might be called a 'neo-Jacobin' commitment to popular sovereignty, understood as the formulation and imposition of a shared political will. A people's egalitarian capacity to concentrate both its collective intelligence and force, from this perspective, takes priority over concerns about how best to represent the full variety of positions and interests that differentiate and divide a community

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1

Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population. We hypothesized that men with spermatogenic impairment, a disease with unknown genetic architecture and a common cause of male infertility, are enriched for rare deleterious mutations compared to men with normal spermatogenesis. After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, we estimate that each rare autosomal deletion detected in our study multiplicatively changes a man’s risk of disease by 10% (OR 1.10 [1.04–1.16], p,261023), rare X-linked CNVs by 29%, (OR 1.29 [1.11–1.50], p,161023), and rare Y-linked duplications by 88% (OR 1.88 [1.13–3.13], p,0.03). By contrasting the properties of our case-specific CNVs with those of CNV callsets from cases of autism, schizophrenia, bipolar disorder, and intellectual disability, we propose that the CNV burden in spermatogenic impairment is distinct from the burden of large, dominant mutations described for neurodevelopmental disorders. We identified two patients with deletions of DMRT1, a gene on chromosome 9p24.3 orthologous to the putative sex determination locus of the avian ZW chromosome system. In an independent sample of Han Chinese men, we identified 3 more DMRT1 deletions in 979 cases of idiopathic azoospermia and none in 1,734 controls, and found none in an additional 4,519 controls from public databases. The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human spermatogenic failure (frequency of 0.38% in 1306 cases and 0% in 7,754 controls, p = 6.261025). Our study identifies other recurrent CNVs as potential causes of idiopathic azoospermia and generates hypotheses for directing future studies on the genetic basis of male infertility and IVF outcomes.This work was partially funded by the Portuguese Foundation for Science and Technology FCT/MCTES (PIDDAC) and co-financed by European funds (FEDER) through the COMPETE program, research grant PTDC/SAU-GMG/101229/2008. IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology, and Higher Education and is partially supported by FCT. AML is the recipient of a postdoctoral fellowship from FCT (SFRH/BPD/73366/2010). CO is supported by a grant from the United States National Institutes of Health (R01 HD21244), JDS is supported by Damon Runyon Clinical Investigator Award, Alex's Lemonade Stand Foundation Epidemiology Award, and the Eunice Kennedy Shriver Children's Health Research Career Development Award NICHD 5K12HD001410. Support for humans studies and specimens were provided by the NIH/NIDDK George M. O'Brien Center for Kidney Disease Kidney Translational Research Core (P30DK079333) grant to Washington University. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Speech Communication

Contains reports on five research projects.C.J. Lebel FellowshipNational Institutes of Health (Grant 5 T32 NS07040)National Institutes of Health (Grant 5 R01 NS04332)National Science Foundation (Grant 1ST 80-17599)U.S. Navy - Naval Electronic Systems Command Contract (N00039-85-C-0254)U.S. Navy - Naval Electronic Systems Command Contract (N00039-85-C-0341)U.S. Navy - Naval Electronic Systems Command Contract (N00039-85-C-0290

A de novo paradigm for male infertility

Funding Information: (DFG, CRU326) to C.F. and F.T. This project was also supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., by grants from the National Institutes of Health of the United States of America (R01HD078641 to D.F.C. and K.I.A., P50HD096723 to D.F.C.) and from the Biotechnology and Biological Sciences Research Council (BB/S008039/1) to D.J.E. Funding Information: We are grateful for the participation of all patients and their parents in this study. We thank Laurens van de Wiel (Radboudumc), Sebastian Judd-Mole (Monash University), Arron Scott and Bryan Hepworth (Newcastle University) for technical support, and Margot J Wyrwoll (University of Münster) for help with handling MERGE samples and data. This project was funded by The Netherlands Organization for Scientific Research (918-15-667) to J.A.V. as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. a grant from the Catherine van Tussenbroek Foundation to M.S.O. a grant from MERCK to R.S. a UUKi Rutherford Fund Fellowship awarded to B.J.H. and the German Research Foundation Clinical Research Unit “Male Germ Cells” Publisher Copyright: © 2022, The Author(s).De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF < 0.1%) protein-altering de novo mutations are classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of loss-of-function de novo mutations in loss-of-function-intolerant genes (p-value = 1.00 × 10−5) in infertile men compared to controls. Additionally, we detected a significant increase in predicted pathogenic de novo missense mutations affecting missense-intolerant genes (p-value = 5.01 × 10−4) in contrast to predicted benign de novo mutations. One gene we identify, RBM5, is an essential regulator of male germ cell pre-mRNA splicing and has been previously implicated in male infertility in mice. In a follow-up study, 6 rare pathogenic missense mutations affecting this gene are observed in a cohort of 2,506 infertile patients, whilst we find no such mutations in a cohort of 5,784 fertile men (p-value = 0.03). Our results provide evidence for the role of de novo mutations in severe male infertility and point to new candidate genes affecting fertility.publishersversionpublishe