Genetics

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

1. Jana Muroňová
2. Zine Eddine Kherraf
3. Elsa Giordani
4. Emeline Lambert
5. Simon Eckert
6. Caroline Cazin
7. Amir Amiri-Yekta
8. Magali Court
9. Geneviève Chevalier
10. Guillaume Martinez
11. Yasmine Neirijnck
12. Francoise Kühne
13. Lydia Wehrli
14. Nikolai Klena
15. Virginie Hamel
16. Lisa De Macedo
17. Jessica Escoffier
18. Paul Guichard
19. Charles Coutton
20. Selima Fourati Ben Mustapha
21. Mahmoud Kharouf
22. Anne-Pacale Bouin
23. Raoudha Zouari
24. Nicolas Thierry-Mieg
25. Serge Nef
26. Stefan Geimer
27. Corinne Loeuillet
28. Pierre F Ray
29. Christophe Arnoult

• Curated by eLife

  eLife assessment

  This study presents valuable information that demonstrates CCDC146 as a novel cause of male infertility that play key role in microtubule-associated structures. The evidence supporting the claims of the authors is solid using combination of human and mouse genetics, biochemical and imaging approaches. This paper would be of interest to cell and developmental biologists working on genes involved in spermatogenesis and male infertility.

Reviewed by eLife

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

1. Bruce Hayward
2. Daman Kumari
3. Saikat Santra
4. Clara D. M. van Karnebeek
5. André B. P. van Kuilenburg
6. Karen Usdin

Reviewed by Arcadia Science

Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans

1. Kurt Warnhoff
2. Sushila Bhattacharya
3. Jennifer Snoozy
4. Peter C Breen
5. Gary Ruvkun

• Curated by eLife

  eLife assessment

  The study presents valuable findings on how the hypoxia response pathway senses and responds to changes in the homeostasis of the amino acid cysteine and other sulfur-containing molecules. By providing a compelling, rigorous genetic analysis of the pathway, the study adds to a growing body of literature showing that prolyl hydroxylation is not the only mechanism by which the hypoxia response pathway can act. Although the paper does not reveal new biochemical insight into the mechanism, it opens up new areas of investigation that will be of interest to cell biologists and biomedical researchers studying the many pathologies involving hypoxia and/or cysteine metabolism.

Reviewed by eLife

The ZMYND8 chromatin factor protects cardiomyocyte identity and function in the mouse heart

1. Andrew Kekūpaʻa Knutson
2. Abigail Avelar
3. Ralph V. Shohet

Reviewed by Review Commons

Yeast eIF2A has a minimal role in translation initiation and uORF-mediated translational control in vivo

1. Swati Gaikwad
2. Fardin Ghobakhlou
3. Hongen Zhang
4. Alan G Hinnebusch

• Curated by eLife

  eLife assessment

  In this important study, Gaikwad and colleagues employed ribosome profiling in conjunction with standard biochemical approaches to investigate the role of eIF2A in translation initiation in yeast under optimal growth conditions or stress. The authors provide convincing data that eIF2A is not implicated in translation initiation in yeast, a finding that is anticipated to inspire future investigations to identify the cellular role(s) of eIF2A in yeast. Considering the broad scope of cellular functions attributed to eIF2A, this study should be of interest to a wide spectrum of biomedical researchers ranging from those studying mechanisms of translation regulation to virologists and cancer biologists.

Reviewed by eLife

Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

1. Thomas A Sasani
2. Aaron R Quinlan
3. Kelley Harris

• Curated by eLife

  eLife assessment

  By developing a novel method for detecting genetic variants associated with germline mutation spectrum variation, this important study identifies a new "mutator" locus in a population of inbred mouse strains, although the causal gene(s) and allele(s) within this locus remain uncertain. The authors further demonstrate that this new mutator locus interacts epistatically with a previously identified mutator allele on C>A mutation rate, showcasing the complexity of the genetic basis underlying variation in mutation rate and spectrum. Evidence for major findings in this paper is convincing, and the new method has the potential to be applicable to a variety of experimental systems and natural populations.

Reviewed by eLife

Genetic basis of Arabidopsis thaliana responses to infection by naïve and adapted isolates of turnip mosaic virus

1. Anamarija Butkovic
2. Thomas James Ellis
3. Ruben Gonzalez
4. Benjamin Jaegle
5. Magnus Nordborg
6. Santiago F Elena

• Curated by eLife

  eLife assessment

  This manuscript presents important findings that inform the genetic underpinnings of the model plant Arabidopsis' resistance to turnip mosaic virus (TuMV). The strength of the evidence in the manuscript is exceptional, with very large sample sizes, careful controls, multiple follow-up experiments, and broadening to the evolutionary context. The evidence provides robust support for each of the manuscript's conclusions and could pave the way for functional studies.

Reviewed by eLife

Identification of 1600 replication origins in S. cerevisiae

1. Eric J Foss
2. Carmina Lichauco
3. Tonibelle Gatbonton-Schwager
4. Sara J Gonske
5. Brandon Lofts
6. Uyen Lao
7. Antonio Bedalov

• Curated by eLife

  eLife assessment

  This study represents a valuable addition to the understanding of the DNA replication origin selection process in the budding yeast. The authors provide convincing evidence that the number of possible origins of replication is much higher than previously appreciated, although many of the newly identified origins are likely to only direct replication initiation rarely. This work will be of interest to those studying DNA replication and investigating protein-DNA interactions across the genome.

Reviewed by eLife

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

1. Hao Yu
2. Anas M Khanshour
3. Aki Ushiki
4. Nao Otomo
5. Yoshinao Koike
6. Elisabet Einarsdottir
7. Yanhui Fan
8. Lilian Antunes
9. Yared H Kidane
10. Reuel Cornelia
11. Rory R Sheng
12. Yichi Zhang
13. Jimin Pei
14. Nick V Grishin
15. Bret M Evers
16. Jason Pui Yin Cheung
17. John A Herring
18. Chikashi Terao
19. You-qiang Song
20. Christina A Gurnett
21. Paul Gerdhem
22. Shiro Ikegawa
23. Jonathan J Rios
24. Nadav Ahituv
25. Carol A Wise

• Curated by eLife

  eLife assessment

  This valuable study analyzes a large cohort of Adolescent Idiopathic Scoliosis (AIS) patients, identifying an association with a variant in COL11A1 (Pro1335Leu). Experimental testing of this potentially pathogenic variant in vitro suggests a connection between Pax1, Col11a1, Mmp3, and estrogen signaling, thus providing solid support for the proposed link between hormonal and matrix components in the development of AIS.

Reviewed by eLife

Telomerase and Alternative Lengthening of Telomeres coexist in the regenerating zebrafish caudal fins

1. Elena Martínez-Balsalobre
2. Monique Anchelin-Flageul
3. Francisca Alcaraz-Pérez
4. Jesús García-Castillo
5. David Hernández-Silva
6. Maria C Mione
7. Victoriano Mulero
8. María L. Cayuela

Reviewed by Review Commons