Genetics

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

The seminal odorant binding protein Obp56g is required for mating plug formation and male fertility in Drosophila melanogaster

1. Nora C Brown
2. Benjamin Gordon
3. Caitlin E McDonough-Goldstein
4. Snigdha Misra
5. Geoffrey D Findlay
6. Andrew G Clark
7. Mariana Federica Wolfner

• Curated by eLife

  eLife assessment

  This important study describes an atypical role of the odorant binding protein Obp56g in mating plug formation in Drosophila melanogaster suggesting that Obps may play roles in reproduction in addition to their originally described roles in olfaction. Mutant males lacking Obp56g fail to induce the formation of a mating plug in the female reproductive tract-leading to ejaculate loss and reduced sperm storage. The evidence supporting the claims of the authors is solid and compelling. The work will be of interest to biologists studying Obps and seminal fluid protein function and their evolution.

Reviewed by eLife

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

1. Hui-Juan Jin
2. Tiechao Ruan
3. Siyu Dai
4. Xin-Yan Geng
5. Yihong Yang
6. Ying Shen
7. Su-Ren Chen

• Curated by eLife

  eLife assessment

  This study provides useful information on the function of a ciliary and flagellar-associated protein, CFAP52, in the assembly of sperm head-tail connecting apparatus (HTCA) and tail formation in humans and mice. The significance is to identify CFAP52 as a genetic factor for asthenoteratozoospermia with a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The strength of the study is that the experimental evidence using CFAP52 loss-of-function in mice is solid to support that CFAP52 is essential for sperm motility and male fertility by contributing to HTCA and 9+2 axoneme, corroborating the sperm phenotypes of human patients with compound heterozygous mutations in CFAP52.

Reviewed by eLife