Genetics

Faroese Whole Genomes Provide Insight into Ancestry and Recent Selection

1. Iman Hamid
2. Ólavur Mortensen
3. Alba Refoyo-Martínez
4. Leivur N Lydersen
5. Anne-Katrin Emde
6. Melissa Hendershott
7. Katrin D Apol
8. Guðrið Andorsdóttir
9. Jonas Meisner
10. Kaja A Wasik
11. Fernando Racimo
12. Stephane E Castel
13. Noomi O Gregersen

• Curated by eLife

  eLife Assessment

  This useful study analyzes demographic history and selection using whole-genome sequencing data from 40 Faroese individuals, generating results of value beyond the study region. The analyses are convincing, and revisions have satisfactorily addressed prior concerns, including clarification of selection analyses and expanded discussion of population structure and admixture timing. While a more fine-scale reconstruction of demographic history could still yield more insights, and access restrictions on individual-level data continue to limit broader reuse, the provision of summary statistics partially mitigates this constraint.

Reviewed by eLife

Drosophila melanogaster model of RVCL-S demonstrates age dependent disease progression

1. Elena Gracheva
2. Abigail Matt
3. Fei Wang
4. Raymond Hsin
5. Hongwu Liang
6. Xiangping Ouyang
7. Jimin Ding
8. Jonathan J Miner
9. Chao Zhou

• Curated by eLife

  eLife Assessment

  This manuscript describing the phenotypes associated with loss and gain of RVCL-S documents important findings that have practical implications. Although the data and methods are solid and support many claims, there remain some concerns about mechanisms.

Reviewed by eLife

A genome-wide MAGIC kit for recombinase-independent mosaic analysis in Drosophila

1. Yifan Shen
2. Ann T Yeung
3. Payton Ditchfield
4. Elizabeth Korn
5. Rhiannon Clements
6. Xinchen Chen
7. Bei Wang
8. Zixian Huang
9. Michael Sheen
10. Parker A Jarman
11. Chun Han

• Curated by eLife

  eLife Assessment

  The study showcases a significant and important enhancement of the MAGIC transgenesis method, by extending it genome-wide to all chromosomes. The authors provide compelling evidence to demonstrate that the MAGIC mosaic clones can be generated for genes from all, including the 4th chromosome. With this toolkit extension, the method is set to complement the classical FRT/Flp recombination system for gene manipulation in flies.

Reviewed by eLife

Sickle cell status skews malaria parasite genotype at infection

1. Helena D. Hopson
2. Alejandra Herbert-Mainero
3. Gaelle Bouopda
4. Charlène Tina Nanssong-Vomo
5. Brigitte Tumamo
6. Belinda Kiam
7. Ibrahima Ibrahima
8. Clément Onguene
9. Luc Abate
10. Radoslaw Igor Omelianczyk
11. Heather D. Evans
12. Lyra E. Horton
13. Gavin Band
14. Tracey J. Lamb
15. Lawrence S. Ayong
16. Sandrine E. Nsango
17. Ellen M. Leffler

Reviewed by Rapid Reviews Infectious Diseases

Mettl5 coordinates protein production and degradation of PERIOD to regulate sleep in Drosophila

1. Xiaoyu Wu
2. Xingzhuo Yang
3. Tiantian Fu
4. Yikang S Rong
5. Juan Du

• Curated by eLife

  eLife Assessment

  The authors present useful findings demonstrating that the RNA modification enzyme Mettl5 regulates sleep in Drosophila. Through transcriptome- and proteome-wide analyses, the authors identified downstream targets affected in heterozygous mutants and proposed that Mettl5 regulates the translation and degradation of clock genes to maintain normal sleep function. Through additional analyses, the authors provided solid evidence that Mettl5 regulates translation and degradation of clock genes to maintain normal sleep cycle. The mechanistic details of Mettl5 is unclear and requires further support.

Reviewed by eLife

Visible traits demonstrate that crispant founder mice can be used for phenotypic assessment

1. Rebekah Tillotson
2. Marina Gertsenstein
3. Li-Hsin Chang
4. Julie Ruston
5. Fernando Bellido Molías
6. Lauri G Lintott
7. Christine Taylor
8. Philippe Gautier
9. Lauryl MJ Nutter
10. Monica J Justice

• Curated by eLife

  eLife Assessment

  This study offers important methodological advances for CRISPR-based mutagenesis in mice, highlighting the potential of founder animals for early phenotypic characterization. The authors present convincing evidence, supported by rigorous experimental design, that "crispant" (F0) analysis in mice, despite prior concerns about genetic mosaicism, can be utilized to assess protein function.

Reviewed by eLife

Distinct chromatin regulators downmodulate meiotic axis protein deposition and DNA break induction at chromosome ends

1. Adhithi R Raghavan
2. Kieron May
3. Vijayalakshmi V Subramanian
4. Hannah G Blitzblau
5. Neem J Patel
6. Jonathan Houseley
7. Andreas Hochwagen

• Curated by eLife

  eLife Assessment

  This valuable paper describes the regulation of the association of meiotic chromosome axis proteins on chromosome ends with sub-telomeric elements in budding yeast. The genome-wide analyses of binding of chromosome components as well as chromatin regulators, complemented with the mapping of meiotic DNA double-strand breaks on chromosome ends, provided incomplete evidence to support the authors' conclusion. The results in the paper are of interest to researchers in meiotic recombination and the structure of genomes and chromosomes.

Reviewed by eLife

Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

1. Russell S. Lo
2. Gareth A. Cromie
3. Michelle Tang
4. Amy Sirr
5. Ljubica Caldovic
6. Hiroki Morizono
7. Nicholas Ah Mew
8. Andrea Gropman
9. Aimée M. Dudley

Reviewed by Review Commons

SETDB1 enables development beyond cleavage stages by extinguishing the MERVL-driven two-cell totipotency transcriptional program in the mouse embryo

1. Tie-Bo Zeng
2. Zhen Fu
3. Mary F Majewski
4. Ji Liao
5. Marie Adams
6. Piroska E Szabó

• Curated by eLife

  eLife Assessment

  This study presents a valuable finding on maternal SETDB1 as a key chromatin repressor that shuts down the 2C gene program and enables normal mouse embryonic development. The evidence supporting the claims of the authors is solid, although the inclusion of a causality test, a mechanistic understanding of SETDB1 targeting, and phenotypic quantification would have greatly strengthened the study. The work will be of broad interest to biologists working on embryonic development, stem cells and gene regulation.

Reviewed by eLife

Reproducibility of Scientific Claims in Drosophila Immunity: A Retrospective Analysis of 400 Publications

1. Hannah Westlake
2. Fabrice David
3. Yao Tian
4. Kenan Krakovic
5. Asya Dolgikh
6. Liza Juravlev
7. Thomas Esmangart de Bournonville
8. Alexia Carboni
9. Claudia Melcarne
10. Tisheng Shan
11. Yang Wang
12. Yizhu Mu
13. Akshata Kotwal
14. Nadia Pirko
15. Jean Philippe Boquete
16. Fanny Schüpfer
17. Samuel Rommelaere
18. Mickael Poidevin
19. Zhonggeng Liu
20. Shu Kondo
21. Girish S Ratnaparkhi
22. Sveta Chakrabarti
23. Guiqing Liu
24. Florent Masson
25. Li Xiaoxue
26. Mark A Hanson
27. Haobo Jiang
28. Francesca Di Cara
29. Estee Kurant
30. Bruno Lemaitre

• Curated by eLife

  eLife Assessment

  This fundamental study is part of an impressive, large-scale effort to assess the reproducibility of published findings in the field of Drosophila immunity. In a companion article, the authors analyze 400 papers published between 1959 and 2011, and assess how many of the claims in these papers have been tested in subsequent publications. In this article, the authors report the results of validation experiments to assess a subset of the claims that, according to the literature, have not been corroborated. While the evidence reported for some of these validation studies is convincing, it remains incomplete for others.

Reviewed by eLife