Genetics

Haplotype function score improves biological interpretation and cross-ancestry polygenic prediction of human complex traits

1. Weichen Song
2. Yongyong Shi
3. Guan Ning Lin

• Curated by eLife

  eLife assessment

  This valuable paper presents a new approach for association testing, using the output of neural networks that have been trained to predict functional changes from DNA sequences. As such, the approach is an interesting addition to statistical genetics, and the evidence for the presented method being able to identify trait-associations in regions where GWASs are typically underpowered is solid. A limitation is, however, that it is unclear how the quality of these associations compares to those detected using conventional methods. Additional work assessing this method's power and characterizing false positives / false negative regions would be critical to ensure that the method is broadly adopted by the field.

Reviewed by eLife

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

1. Guglielmo Schiano
2. Jennifer Lake
3. Marta Mariniello
4. Céline Schaeffer
5. Marianne Harvent
6. Luca Rampoldi
7. Eric Olinger
8. Olivier Devuyst

Reviewed by Review Commons

An adapted MS2-MCP system to visualize endogenous cytoplasmic mRNA with live imaging in Caenorhabditis elegans

1. Cristina Tocchini
2. Susan E. Mango

Reviewed by Review Commons

A population modification gene drive targeting both Saglin and Lipophorin impairs Plasmodium transmission in Anopheles mosquitoes

1. Emily I Green
2. Etienne Jaouen
3. Dennis Klug
4. Roenick Proveti Olmo
5. Amandine Gautier
6. Stéphanie Blandin
7. Eric Marois

Reviewed by Review Commons

Regional random mutagenesis driven by multiple sgRNAs and diverse on-target genome editing events to identify functionally important elements in non-coding regions

1. Kento Morimoto
2. Hayate Suzuki
3. Akihiro Kuno
4. Yoko Daitoku
5. Yoko Tanimoto
6. Kanako Kato
7. Kazuya Murata
8. Fumihiro Sugiyama
9. Seiya Mizuno

Reviewed by Review Commons

Copy number variation and population-specific immune genes in the model vertebrate zebrafish

1. Yannick Schäfer
2. Katja Palitzsch
3. Maria Leptin
4. Andrew R Whiteley
5. Thomas Wiehe
6. Jaanus Suurväli

Reviewed by Review Commons

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis

1. Kathryn M Yammine
2. Sophia Mirda Abularach
3. Seo-yeon Kim
4. Agata A Bikovtseva
5. Jinia Lilianty
6. Vincent L Butty
7. Richard P Schiavoni
8. John F Bateman
9. Shireen R Lamandé
10. Matthew D Shoulders

Reviewed by Review Commons

The BTB-ZF gene Bm-mamo regulates pigmentation in silkworm caterpillars

1. Songyuan Wu
2. Xiaoling Tong
3. Chenxing Peng
4. Jiangwen Luo
5. Chenghao Zhang
6. Kunpeng Lu
7. Chunlin Li
8. Xin Ding
9. Xiaohui Duan
10. Yaru Lu
11. Hai Hu
12. Duan Tan
13. Fangyin Dai

• Curated by eLife

  eLife assessment

  This important study identifies the gene mamo as a new regulator of pigmentation in the silkworm Bombyx mori, a function that was previously unsuspected based on extensive work on Drosophila where the mamo gene is involved in gamete production. The evidence supporting the role of Bm-nano in pigmentation is convincing, including high-resolution linkage mapping of two mutant strains, expression profiling, and reproduction of the mutant phenotypes with state-of-the-art RNAi and CRISPR knock-out assays. The work will be of interest to evolutionary biologists and geneticists studying color patterns and evolution of gene networks.

Reviewed by eLife

The Genetic Architecture of Dietary Iron Overload and Associated Pathology in Mice

1. Brie K. Fuqua
2. Lambda Moses
3. Stela McLachlan
4. Calvin Pan
5. Richard C. Davis
6. Simon T. Hui
7. Nam Che
8. Zhiqiang Zhou
9. Carmen Ng
10. Sarada Charugundla
11. Montgomery Blencowe
12. Zara Saleem
13. Aika Miikeda
14. Beyza Ozdemir
15. Chester Hui
16. Thy Li
17. Clara L. Stolin
18. Marianne Kozuch
19. Jie Zhou
20. Kathryn Page
21. Hiro Irimagawa
22. Nam Ku
23. Kodi Taraszka
24. Nathan LaPierre
25. David W. Killilea
26. David M. Frazer
27. Xia Yang
28. Eleazar Eskin
29. Chris D. Vulpe
30. Aldons J. Lusis

• Curated by eLife

  eLife assessment

  This manuscript presents a detailed phenotyping of the role of dietary iron in a large number of genetically distinct mouse strains. There are exciting and convincing data that could be valuable in their impact on the fields of nutrition, iron metabolism and anemia.

Reviewed by eLife

Is competition for cellular resources a driver of complex trait heritability?

1. Olivier Naret
2. Yuval Simons
3. Jacques Fellay
4. Jonathan K Pritchard

• Curated by eLife

  eLife assessment

  This solid study addresses the unresolved question of why many thousands of small-effect loci contribute more to the heritability of a trait than the large-effect lead variants. The authors explore resource competition within the transcriptional machinery as one possible explanation with a simple theoretical model, concluding that the effects of resource competition would be too small to explain the heritability effects. The topic and approximation of the problem are important and offer an intuitive way to think about polygenic variation, but there are concerns on the derivation of the equations with respect to dropping vs. including certain terms that deal inherently with small numbers.

Reviewed by eLife