Genetics

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

Mitochondrial unfolded protein response transcription factor ATFS-1 increases resistance to exogenous stressors through upregulation of multiple stress response pathways

1. Sonja K. Soo
2. Annika Traa
3. Meeta Mistry
4. Jeremy M. Van Raamsdonk

Reviewed by Review Commons

A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities

1. Jeanne Rakotopare
2. Vincent Lejour
3. Carla Duval
4. Eliana Eldawra
5. Hugues Escoffier
6. Franck Toledo

Reviewed by Review Commons

A randomized multiplex CRISPRi-Seq approach for the identification of critical combinations of genes

1. Nicole A Ellis
2. Kevin S Myers
3. Jessica Tung
4. Anne Davidson Ward
5. Kathryn Johnston
6. Katherine E Bonnington
7. Timothy J Donohue
8. Matthias P Machner

• Curated by eLife

  eLife assessment

  This important study uses CRISPRi to silence multiple effectors in the pathogen, Legionella pneumophila. It provides a technique that will allow researchers to address functional redundancy amongst effectors, a problem that has persisted even after decades of study. The methodology used is convincing, and further improvement (such as using multiple guides per gene) can lead to the identification of novel virulence factors.

Reviewed by eLife

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases

1. Izarbe Aísa-Marín
2. Quirze Rovira
3. Noelia Díaz
4. Laura Calvo-López
5. Juan M. Vaquerizas
6. Gemma Marfany

Reviewed by Review Commons

Nicotinic acetylcholine receptor signaling maintains epithelial barrier integrity

1. Nadja S Katheder
2. Kristen C Browder
3. Diana Chang
4. Ann De Maziere
5. Pekka Kujala
6. Suzanne van Dijk
7. Judith Klumperman
8. Tzu-Chiao Lu
9. Hongjie Li
10. Zijuan Lai
11. Dewakar Sangaraju
12. Heinrich Jasper

• Curated by eLife

  eLife assessment

  This study reveals a novel mechanism of Acetylcholine- Acetylylcholine receptor signaling in regulating gut barrier function in Drosophila, which provides important implications on the pathway played in human diseases, such as Chronic Obstructive Pulmonary DiseaseCOPD. The evidence supporting the claims of the authors is solid.

Reviewed by eLife

Broad functional profiling of fission yeast proteins using phenomics and machine learning

1. María Rodríguez-López
2. Nicola Bordin
3. Jon Lees
4. Harry Scholes
5. Shaimaa Hassan
6. Quentin Saintain
7. Stephan Kamrad
8. Christine Orengo
9. Jürg Bähler

• Curated by eLife

  eLife assessment

  This important study combines extensive phenotyping of genome-wide deletion mutants and machine learning-based prediction to generate a large scale resource for understanding the functions of thousands of fission yeast protein-coding genes. This resource is supported by convincing phenotyping data and state-of-the-art bioinformatic analyses and will be of interest to many geneticists.

Reviewed by eLife

Ciliary ARL13B is essential for body weight regulation in mice

1. Tiffany T. Terry
2. Eduardo D. Gigante
3. Coralie M. Alexandre
4. Kathryn M. Brewer
5. Xinyu Yue
6. Nicolas F. Berbari
7. Christian Vaisse
8. Tamara Caspary

Reviewed by PREreview