Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway. We demonstrate that, upon induced DNA damage, the NPHP-RC proteins ZNF423, CEP164, and NPHP10 colocalize to nuclear foci positive for TIP60, known to activate ATM at sites?of DNA damage. We show that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype. Our findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR. PAPERFLICK:     

Synergistic Population Density and Environmental Effects on Deer Body Condition

The ability to predict energy and protein allocation to different body condition parameters according to environmental constraints is a key component in understanding the processes underlying population dynamics. We investigated the influence of a proxy of population density and environmental factors on individual body condition parameters of female white-tailed deer (Odocoileus virginianus) based on long-term monitoring (2002–2013) of autumn harvest on Anticosti Island, Québec, Canada. We used dressed body mass, peroneus muscle mass, and rump fat thickness to evaluate the nutritional status of 3,123 adult females. Density index and winter precipitation negatively affected fat reserves in autumn. We detected the negative effect of winter precipitation on fat reserves only at low density likely because individuals at high density were already in bad condition. High normalized difference vegetation index (NDVI) in spring (May–Jun) reduced body mass, and this influence was more pronounced under high population density, probably because individuals at high densities were less likely to be buffered against environmental fluctuations when resources were scarcer than resources at low population density. Using different body condition parameters, our results provide additional insights on how northern ungulates influenced by food limitation may respond to future environmental changes. We recommend managers to collect long-term data on multiple physiological indicators of body condition. These data could be used as an index of ecological changes and provide a quantitative basis to help setting harvest objectives or supporting adaptive management. © 2020 The Wildlife Society.     

High genetic diversity despite drastic bottleneck in a critically endangered,long‐lived seabird,the Mascarene Petrel Pseudobulweria aterrima

The Mascarene Petrel Pseudobulweria aterrima is a critically endangered seabird endemic to Reunion Island, with an extremely small population suffering several threats. Fifteen polymorphic microsatellite loci were isolated from this species to analyse genetic diversity, estimate contemporary effective population size, search for evidence of a population bottleneck and see whether results support the hypothesis that life history traits could preserve allelic diversity in small populations. Results from 22 individuals found grounded as a consequence of light pollution highlight a surprisingly high genetic diversity, an absence of inbreeding, a contemporary effective population size estimated at approximately 1211 individuals and a probable bottleneck around 10 000 generations ago. Additional studies on genetic diversity and structure from a larger number of samples are thus required to evaluate the evolutionary potential of this critically endangered species.     

Quantification by affinity perfusion chromatography of phosphorylated BRCAl and BRCA2 proteins from tumor cells after lycopene treatment

A new procedure for the quantification of phosphorylated BRCA1 (P-BRCA1) and BRCA2 (P-BRCA2) proteins in breast cell lines after different treatments was carried out. Cells were cultivated with [35S]-methionine and extracts subjected to three perfusion chromatographies. First heparin affinity chromatography purified cellular DNA-binding proteins. Subsequent specific immunoprecipitation of BRCA1 and BRCA2 proteins was performed with antibodies raised against BRCA1 or BRCA2. The immune complexes were isolated by protein A affinity chromatography. Phosphorylated BRCA1 or BRCA2 proteins were then purified with a Poros 20 AL column where anti-phosphothreonine and anti-phosphoserine antibodies were previously bound. The percentage of phosphorylated BRCA1 or BRCA2 proteins was calculated as follows: 100 x dpm of P-BRCA1 or P-BRCA2 eluted from the POROS 20AL column/total dpm eluted from POROS 20AL column. Treatment with 10 microM lycopene increased P-BRCA1 and P-BRCA2 in the breast tumor cell line MCF7 but not in MDA-MB-231 or MCF-10a, breast tumor or fibrocystic cell lines, respectively.     

Old and unmowed saltmarsh patches provide attractive habitats for breeding passerines

Although the conservation stakes of saltmarshes are widely documented, these areas are still subjected to strong anthropic pressures, including land reclamation, leading to their conversion into arable lands, and agricultural exploitation (mainly cattle grazing and mowing), which modifies their floral and faunal composition. Through the example of one of the largest French saltmarshes, we first assessed how the age of the saltmarsh patches and the mowing intensity determined the spatial distribution of the different saltmarsh habitats. We then tested how the five commonest breeding passerines were distributed in accordance with the mowing activity and the distribution of these habitats. We found that the oldest and the unmowed patches promote the development of habitats dominated by Elymus pungens and Atriplex portulacoides, and also host the highest abundance of four of the five bird species studied. In the current context of an intense artificialization of the littoral area, this study highlights the importance of maintaining the oldest and the least human-impacted patches of natural habitats to conserve their associated biodiversity.