Genetics

The genetics of eating behaviors: research in the age of COVID-19

1. Mackenzie E. Hannum
2. Cailu Lin
3. Katherine Bell
4. Aurora Toskala
5. Riley Koch
6. Tharaka Galaniha
7. Alissa Nolden
8. Danielle R Reed
9. Paule Joseph

Reviewed by ScreenIT

Mapping interindividual dynamics of innate immune response at single-cell resolution

1. Natsuhiko Kumasaka
2. Raghd Rostom
3. Ni Huang
4. Krzysztof Polanski
5. Kerstin B. Meyer
6. Sharad Patel
7. Rachel Boyd
8. Celine Gomez
9. Sam N. Barnett
10. Nikolaos I. Panousis
11. Jeremy Schwartzentruber
12. Maya Ghoussaini
13. Paul A. Lyons
14. Fernando J. Calero-Nieto
15. Berthold Göttgens
16. Josephine L. Barnes
17. Kaylee B. Worlock
18. Masahiro Yoshida
19. Marko Z. Nikolić
20. Emily Stephenson
21. Gary Reynolds
22. Muzlifah Haniffa
23. John C. Marioni
24. Oliver Stegle
25. Tzachi Hagai
26. Sarah A. Teichmann

Reviewed by ScreenIT

A sex-specific evolutionary interaction between ADCY9 and CETP

1. Isabel Gamache
2. Marc-André Legault
3. Jean-Christophe Grenier
4. Rocio Sanchez
5. Eric Rhéaume
6. Samira Asgari
7. Amina Barhdadi
8. Yassamin Feroz Zada
9. Holly Trochet
10. Yang Luo
11. Leonid Lecca
12. Megan Murray
13. Soumya Raychaudhuri
14. Jean-Claude Tardif
15. Marie-Pierre Dubé
16. Julie Hussin

• Curated by eLife

  Evaluation Summary:

  This study presents evidence supporting population and sex-specific selection and an epistatic interaction between variants in the genes ADCY9 and CETP of pharmacogenetic importance. The confluence of evidence from population genetics, gene expression, functional experiments, and phenotypic association lends support to the paper's claims beyond what may be achieved by a single analysis. All three reviewers and I agreed that this work is of high interest in medical and population genetics and addresses a challenging topic in an impactful way.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. Reviewer #1 agreed to share their name with the authors.)

Reviewed by eLife

Regional Variant Analysis of Spike Glycoprotein Mutations of SARS-CoV-2 and Its Implications in COVID-19 Pandemic Control

1. Punnoth Poonkuzhi Naseef
2. Mohamed Saheer Kuruniyan
3. Shyju Ollakkod
4. U.K. Ilyas
5. Muhammed Elayadeth-Meethal

Reviewed by ScreenIT

Mutational sources of trans-regulatory variation affecting gene expression in Saccharomyces cerevisiae

1. Fabien Duveau
2. Petra Vande Zande
3. Brian PH Metzger
4. Crisandra J Diaz
5. Elizabeth A Walker
6. Stephen Tryban
7. Mohammad A Siddiq
8. Bing Yang
9. Patricia J Wittkopp

• Curated by eLife

  Evaluation Summary:

  One key question in evolutionary biology is how traits can be affected by spontaneous mutations. This relationship between traits and mutations influences the rate and direction in which traits evolve. Here, the authors map a set of mutations that affect the expression of a focal gene in yeast, and examine their individual effects and locations in the genome and in the regulatory network. The work is rigorous and the results are well presented. The findings will be of great interest for geneticists and evolutionary biologists interested in the evolution of gene expression and of complex traits. Additional analyses and discussions will strengthen the generalization of the conclusions.

Reviewed by eLife

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

1. Teresa Romeo Luperchio
2. Leandros Boukas
3. Li Zhang
4. Genay Pilarowski
5. Jenny Jiang
6. Allison Kalinousky
7. Kasper D Hansen
8. Hans T Bjornsson

• Curated by eLife

  Evaluation Summary:

  This manuscript finds common molecular features in the blood of three "Mendelian Disorder of the Epigenetic Machinery" (MDEM) mouse models. These shared features (chromatin accessibility and gene expression) may underlie some of the clinical similarities of these disorders. This work will be of interest to researchers, and to some clinicians studying MDEM and epigenetic variation in mammals. Additional analyses are needed to strengthen the conclusions.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. The reviewers remained anonymous to the authors.)

Reviewed by eLife

Variation in human herpesvirus 6B telomeric integration, excision, and transmission between tissues and individuals

1. Michael L Wood
2. Colin D Veal
3. Rita Neumann
4. Nicolás M Suárez
5. Jenna Nichols
6. Andrei J Parker
7. Diana Martin
8. Simon PR Romaine
9. Veryan Codd
10. Nilesh J Samani
11. Adriaan A Voors
12. Maciej Tomaszewski
13. Louis Flamand
14. Andrew J Davison
15. Nicola J Royle

• Curated by eLife

  Evaluation Summary:

  Human Herpesvirus 6A (HHV6A) and 6B are common herpesviruses that establish lifelong infection in latent form and can cause severe disease upon reactivation. They are spread by acquired infection of free virus and by germ-line transmission of inherited chromosomally-integrated HHV-6A/6B in telomeres. The authors develop an approach to analyse a hypervariable region of the HHV-6B genome and exploit it to investigate the relationship between acquired and inherited virus, presenting evidence that HHV-6B can readily transition between telomere-integrated and free virus forms.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. Reviewer #1 agreed to share their name with the authors.)

Reviewed by eLife

Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

1. Sonia Coni
2. Federica A Falconio
3. Marta Marzullo
4. Marzia Munafò
5. Benedetta Zuliani
6. Federica Mosti
7. Alessandro Fatica
8. Zaira Ianniello
9. Rosa Bordone
10. Alberto Macone
11. Enzo Agostinelli
12. Alessia Perna
13. Tanja Matkovic
14. Stephan Sigrist
15. Gabriella Silvestri
16. Gianluca Canettieri
17. Laura Ciapponi

• Curated by eLife

  Evaluation Summary:

  This paper is of interest and relevance to clinicians and researchers in the field of muscular dystrophy, a condition that causes loss of muscle function and mobility primarily in older patients. The presented experiments suggest that at least part of the pathology of DM2, a certain form of muscular dystrophy, is caused by defects in a gene that is required for the production of small molecules, called polyamines which are known to support muscle health and function. Interestingly, in a Drosophila model of DM2, feeding with polyamines can restore muscle function. The paper gains broad interest by the demonstration that consistent with the findings in Drosophila, muscle biopsies from human DM2 patients show decreased ODC and polyamine levels, raising the possibility of using polyamines for therapy or prevention.

  (This preprint has been reviewed by eLife. We include the public reviews from the reviewers here; the authors also receive private feedback with suggested changes to the manuscript. Reviewer #1 agreed to share their name with the authors.)

Reviewed by eLife

Regulatory dissection of the severe COVID-19 risk locus introgressed by Neanderthals

1. Evelyn Jagoda
2. Davide Marnetto
3. Gayani Senevirathne
4. Victoria Gonzalez
5. Kaushal Baid
6. Francesco Montinaro
7. Daniel Richard
8. Darryl Falzarano
9. Emmanuelle V LeBlanc
10. Che C Colpitts
11. Arinjay Banerjee
12. Luca Pagani
13. Terence D Capellini

• Curated by eLife

  eLife assessment

  Scientists had previously discovered that humans and neanderthals mated leading to parts of neanderthal DNA becoming part of the human genome today. More recently, it was found that a genetic region, carrying which has been associated with manifestation of severe COVID-19 symptoms, is one that was "introgressed" into humans from neanderthals. This region contains many genetic variants, and this study set out to identify which of these genetic variants may be causally involved in creating severe symptoms in response to COVID-19 infection. The main critiques of the study stem from details of the functional assays to establish the regulatory role of the 4 variants in creating severe COVID-19 symptoms. In particular, the two genes (critical chemokine receptor genes: CCR1 and CCR5) that the authors identify as down-regulated by these variants are actually up-regulated in severe COVID-19 patients, leading to doubt about the role of these variants in changing response to COVID-19 through the regulation of these genes. In that regard, it seems necessary to conduct follow-up experimental and computational analyses to establish the role of these variants in altering CCR1 and CCR5 gene expression.

Reviewed by eLife, ScreenIT

Intronic regulation of SARS-CoV-2 receptor (ACE2) expression mediated by immune signaling and oxidative stress pathways

1. Daniel Richard
2. Pushpanathan Muthuirulan
3. Jennifer Aguiar
4. Andrew C. Doxey
5. Arinjay Banerjee
6. Karen Mossman
7. Jeremy Hirota
8. Terence D. Capellini

Reviewed by ScreenIT