Genetics

The domesticated transposon protein L1TD1 associates with its ancestor L1 ORF1p to promote LINE-1 retrotransposition

1. Gülnihal Kavaklıoğlu
2. Alexandra Podhornik
3. Terezia Vcelkova
4. Jelena Marjanovic
5. Mirjam A. Beck
6. Trinh Phan-Canh
7. Theresia Mair
8. Claudia Miccolo
9. Aleksej Drino
10. Mirko Doni
11. Gerda Egger
12. Susanna Chiocca
13. Miha Modic
14. Christian Seiser

• Curated by eLife

  eLife Assessment

  This important paper reports functional interactions between L1TD1, an RNA binding protein (RBP), and its ancestral LINE-1 retrotransposon which is not modulated at the translational level. The evidence for the association between L1TD1 and LINE-1 ORF1p is solid. The work implies that the a transposon-derived RNA binding protein in the human genome can interact with the ancestral transposable element from which this protein was initially derived. This work spurs interesting questions for cancer types, where LINE1 and L1TD1 are aberrantly expressed.

Reviewed by eLife

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity

1. Hirokazu Kimura
2. Kamel Lahouel
3. Cristian Tomasetti
4. Nicholas J Roberts

• Curated by eLife

  eLife Assessment

  This is a potentially important study on interpretation of protein coding genetic variation in CDKN2A. The presentation of the data has improved, revealing that the experimental design is flawed and concerns that the data that are not robust enough to support the major claim of supporting clinical variant interpretation for CDKN2A. This work, while incomplete, will serve as a resource for diagnostic labs as well as cancer geneticists.

Reviewed by eLife

Female-germline specific protein Sakura interacts with Otu and is crucial for germline stem cell renewal and differentiation and oogenesis

1. Azali Azlan
2. Li Zhu
3. Ryuya Fukunaga

• Curated by eLife

  eLife Assessment

  This valuable study reports the first characterization of the CG14545 gene in Drosophila melanogaster, which the authors name "Sakura." Acting during germline stem cell fate and differentiation, Sakura is required for both oogenesis and female fertility. The evidence supporting the claims of the authors is solid, but the manuscript would be strengthened by a more in-depth investigation into the cause-and-effect relationships for the different defects observed.

Reviewed by eLife

A transcription network underlies the dual genomic coordination of mitochondrial biogenesis

1. Fan Zhang
2. Annie Lee
3. Anna Freitas
4. Jake Herb
5. Zongheng Wang
6. Snigdha Gupta
7. Zhe Chen
8. Hong Xu

• Curated by eLife

  eLife Assessment

  This study's findings substantially advance our understanding of an important aspect of mitochondrial metabolism. The data are compelling and the study is well executed. The work is relevant to all who are interested in the biogenesis of mitochondria.

Reviewed by eLife

Sir2 and Fun30 regulate ribosomal DNA replication timing via MCM helicase positioning and nucleosome occupancy

1. Carmina Lichauco
2. Eric J Foss
3. Tonibelle Gatbonton-Schwager
4. Nelson F Athow
5. Brandon Lofts
6. Robin Acob
7. Erin Taylor
8. James J Marquez
9. Uyen Lao
10. Shawna Miles
11. Antonio Bedalov

• Curated by eLife

  eLife Assessment

  This valuable study is a detailed investigation of how chromatin structure influences replication origin function in yeast ribosomal DNA, with a focus on the role of the histone deacetylase Sir2 and the chromatin remodeler Fun30. The paper shows that Sir2 does not affect origin licensing but rather affects local transcription and nucleosome positioning which correlates with increased origin firing. Overall, the evidence is convincing and the model is plausible.

Reviewed by eLife

The Drosophila maternal-effect gene abnormal oocyte ( ao ) does not repress histone gene expression

1. Risa Takenaka
2. Sierra M. Simmerman
3. Casey A. Schmidt
4. Eric H. Albanese
5. Leila E. Rieder
6. Harmit S. Malik

Reviewed by Review Commons

A genome-wide association study implicates the olfactory system in Drosophila melanogaster diapause-associated lifespan extension and fecundity

1. Sreesankar Easwaran
2. Denise J Montell

• Curated by eLife

  eLife Assessment

  This useful study shows how genetic variation is associated with fecundity following a period of reproductive diapause in female Drosophila. The work identifies the olfactory system as central to successful diapause with associated changes in longevity and fecundity. While the methods used are solid, a limitation of the study, as of any other laboratory-based investigation is the challenge of demonstrating how well measures for fitness related to diapause and its recovery correlates with realities encountered during development in the wild.

Reviewed by eLife

Proteostasis modulates gene dosage evolution in antibiotic-resistant bacteria

1. Chinmaya Jena
2. Saillesh Chinnaraj
3. Soham Deolankar
4. Nishad Matange

• Curated by eLife

  eLife Assessment

  This important study explores the interplay between gene dosage and gene mutations in the evolution of antibiotic resistance. The authors provide solid evidence to connect proteostasis with gene duplication during experimental evolution in a model system. If the experiments are found to be rigorous and reproducible, then this paper will be of high interest to other researchers studying antibiotic resistance, proteostasis, and bacterial evolution.

Reviewed by eLife

Systematic genetic characterization of the human PKR kinase domain highlights its functional malleability to escape a poxvirus substrate mimic

1. Michael James Chambers
2. Sophia B Scobell
3. Meru J Sadhu

• Curated by eLife

  eLife Assessment

  This important revised report describes the control of the activity of the RNA-activated protein kinase, PKR, by the Vaccinia virus K3 protein. A strength of the manuscript is the powerful combination of a classic yeast-based assay with high-throughput sequencing and its convincing experimental use to characterize large numbers of PKR variants, now with improved controls for potential biases. A minor current limitation that the authors may address in the future is the scope of the screen in terms of the segments of PKR included.

Reviewed by eLife

Becker muscular dystrophy mice showed site-specific decay of type IIa fibers with capillary change in skeletal muscle

1. Daigo Miyazaki
2. Mitsuto Sato
3. Naoko Shiba
4. Takahiro Yoshizawa
5. Akinori Nakamura

• Curated by eLife

  eLife Assessment

  The authors present three valuable transgenic models carrying three representative exon deletions of the dystrophin gene. The findings are supported by rigorous biochemical assays and state-of-the-art microscopy methods, although the evidence, while overall solid, is only partially developed, and some points could be improved.

Reviewed by eLife