Cold thermopeaking-induced drift of nase Chondrostoma nasus larvae.

Research on how intermittent water releases from hydropower plants affect the early life stages of fish has advanced in the last years, focusing not only on the direct impacts of rapid flow changes (hydropeaking), but also on the short-term fluctuations in water temperature (thermopeaking). Flow and thermal fluctuations caused by hydropeaking may affect fish movement patterns and migration at critical stages of a species' life cycle, e.g., by inducing passive downstream drift. Using two experimental outdoor channels, we investigated how nase (Chondrostoma nasus, Cypriniformes) larvae respond to a rapid drop in water temperature during hydropeaking (simulating a cold thermopeaking event), reaching on average 5.5 °C under peak flow (maximum discharge) conditions, in comparison with a hydropeaking treatment with a constant water temperature regime. Responses of fish larvae were analyzed during acclimation, up-ramping (increase in discharge), peak flow and down-ramping (decrease in discharge) phases. Fish drift increased during peak flow in the cold thermopeaking treatment compared to hydropeaking. Higher drift rates were also negatively associated with pronounced water temperature drops during peak flow conditions. In addition, the starting temperature of the experiment influenced drift during up-ramping. Overall, the results suggest that cold thermopeaking may increase drift in the early life stages of cypriniform fish compared with hydropeaking with stable water temperature. Hence, monitoring and active water temperature adjustments following hydropower releases should be adopted as strategies to mitigate power plant-related impacts on aquatic organisms. Supplementary Information: The online version contains supplementary material available at 10.1007/s00027-023-00955-x.

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.

Loss-of-function variants in the MC1R gene cause recessive red or yellow coat-colour phenotypes in many species. The canine MC1R:c.916C>T (p.Arg306Ter) variant is widespread and found in a homozygous state in many uniformly yellow- or red-coloured dogs. We investigated cream-coloured Australian Cattle Dogs whose coat colour could not be explained by this variant. A genome-wide association study with 10 cream and 123 red Australian Cattle Dogs confirmed that the cream locus indeed maps to MC1R. Whole-genome sequencing of cream dogs revealed a single nucleotide variant within the MITF binding site of the canine MC1R promoter. We propose to designate the mutant alleles at MC1R:c.916C>T as e1 and at the new promoter variant as e2 . Both alleles segregate in the Australian Cattle Dog breed. When we considered both alleles in combination, we observed perfect association between the MC1R genotypes and the cream coat colour phenotype in a cohort of 10 cases and 324 control dogs. Analysis of the MC1R transcript levels in an e1 /e2 compound heterozygous dog confirmed that the transcript levels of the e2 allele were markedly reduced with respect to the e1 allele. We further report another MC1R loss-of-function allele in Alaskan and Siberian Huskies caused by a 2-bp deletion in the coding sequence, MC1R:c.816_817delCT. We propose to term this allele e3 . Huskies that carry two copies of MC1R loss-of-function alleles have a white coat colour.

A model-based fish bioassessment index for Eastern Mediterranean rivers: Application in a biogeographically diverse area.

In ecosystems with high fish species endemicity, such as Mediterranean-type rivers, biogeographical differences among ecoregions present serious obstacles to developing broadly-applicable river bioassessment indices. This impediment has contributed to a serious time-lag in developing EU policy-relevant fish-based indices in the Eastern Mediterranean countries. Here we present the first model-based fish index for the Eastern Mediterranean (the Hellenic Fish Index, HeFI) in an effort to overcome biogeographic differences among the area's biotically heterogeneous rivers. The index is based on modelled reference conditions and employs site-specific electrofished fish samples from an extensive dataset from Greece that covers six freshwater ecoregions, including five transboundary river basins flowing through six countries. Environmental and anthropogenic pressure data were procured from 403 sampled river sites and ecologically-relevant traits were defined for 103 collected fish species. For the development of the index, we first diagnosed least degraded sites forming a calibrated reference site dataset and secondly quantified differences of fish metrics between the reference and impaired sites. Four trait-based fish metrics showed the best ability to discriminate between impaired and reference sites. The index performed well in discriminating anthropogenic pressure classes, giving a significant negative linear response to a gradient of anthropogenic degradation. HeFI successfully assessed both small and large rivers in different freshwater ecoregions. This geographically broad-scale index development shows that key trait-based reference conditions can be produced by a predictive model in remarkably heterogeneous rivers where range-restricted fishes dominate. This index promotes a screening-level bioassessment application that may be further developed and refined with relevant monitoring.

The variant red coat colour phenotype of Holstein cattle maps to BTA27.

The variant red phenotype in Holstein cattle is indistinguishable from the traditional e/e recessive red phenotype caused by a mutation in melanocortin 1 receptor, but is inherited as a dominant trait in relation to black. Co-segregation analysis in four half-sib families segregating for variant red was conducted, excluding melanocortin 1 receptor, agouti signalling protein, attractin and melatonin receptor 1A as causative genes. However, variant red co-segregated with markers in a region of BTA27 that includes beta-defensin 103 (DEFB103). Two newly identified microsatellites and 5 SNPs 5' of DEFB103 were used for linkage mapping in four segregating families (LOD = 3.26). One haplotype was inherited in VR cattle in a 6-generation pedigree.

Genetic variation in the pro-melanin-concentrating hormone gene affects carcass traits in Bos taurus cattle.

Mammalian pro-melanin-concentrating hormone (PMCH) has previously been shown to affect feed intake in rodent species. The objectives of this study were to sequence the Bos taurus PMCH gene in order to identify any existing genetic variants and to evaluate whether these affected carcass traits. An A-to-T SNP was identified at position -134 relative to the ATG start codon (g.-134A>T). The alleles at this SNP were significantly associated with average fat and grade fat in two crossbred populations of Bos taurus cattle. The g.-134T allele may introduce a binding site for the transcriptional repressor, adenovirus E4 promoter binding protein, which may contribute to this effect. The g.-134A allele occurred in 67% of cattle examined and was associated with higher fat levels.

Genes affecting coat colour and pattern in domestic dogs: a review.

Tremendous progress has been made in identifying genes involved in pigmentation in dogs in the past few years. Comparative genomics has both aided and benefited from these findings. Seven genes that cause specific coat colours and/or patterns in dogs have been identified: melanocortin 1 receptor, tyrosinase related protein 1, agouti signal peptide, melanophilin, SILV (formerly PMEL17), microphthalmia-associated transcription factor and beta-defensin 103. Although not all alleles have been yet identified at each locus, DNA tests are available for many. The identification of these alleles has provided information on interactions in this complex set of genes involved in both pigmentation and neurological development. The review also discusses pleiotropic effects of some coat colour genes as they relate to disease. The alleles found in various breeds have shed light on some potential breed development histories and phylogenetic relationships. The information is of value to dog breeders who have selected for and against specific colours since breed standards and dog showing began in the late 1800s. Because coat colour is such a visible trait, this information will also be a valuable teaching resource.

Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf.

Simmental thrombopathia is an inherited platelet disorder that closely resembles the platelet disorders described in Basset Hounds and Eskimo Spitz dogs. Recently, two different mutations in the gene encoding calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) were described to be associated with the Basset Hound and Spitz thrombopathia disorders, and a third distinct mutation was identified in CalDAG-GEFI in thrombopathic Landseers of European Continental Type. The gene encoding CalDAG-GEFI was sequenced using DNA obtained from normal cattle and from a thrombopathic calf studied in Canada. The affected calf was found to have a nucleotide change (c.701 T>C), which would result in the substitution of a proline for a leucine within structurally conserved region two (SCR2) of the catalytic domain of the protein. This change is likely responsible for the thrombopathic phenotype observed in Simmental cattle and underscores the critical nature of this signal transduction protein in platelets.

Assessing the impact of a downscaled climate change simulation on the fish fauna in an Inner-Alpine River.

This study assesses the impact of a changing climate on fish fauna by comparing the past mean state of fish assemblage to a possible future mean state. It is based on (1) local scale observations along an Inner-Alpine river called Mur, (2) an IPCC emission scenario (IS92a), implemented by atmosphere-ocean global circulation model (AOGCM) ECHAM4/OPYC3, and (3) a model-chain that links climate research to hydrobiology. The Mur River is still in a near-natural condition and water temperature in summer is the most important aquatic ecological constraint for fish distribution. The methodological strategy is (1) to use downscaled air temperature and precipitation scenarios for the first half of the twenty-first century, (2) to establish a model that simulates water temperature by means of air temperature and flow rate in order to generate water temperature scenarios, and (3) to evaluate the impact on fish communities using an ecological model that is driven by water temperature. This methodology links the response of fish fauna to an IPCC emission scenario and is to our knowledge an unprecedented approach. The downscaled IS92a scenarios show increased mean air temperatures during the whole year and increased precipitation totals during summer, but reduced totals for the rest of the annual cycle. These changes result in scenarios of increased water temperatures, an altered annual cycle of flow rate, and, in turn, a 70 m displacement in elevation of fish communities towards the river's head. This would enhance stress on species that rely on low water temperatures and coerce cyprinid species into advancing against retreating salmonids. Hyporhithral river sectors would turn into epipotamal sectors. Grayling (Thymallus thymallus) and Danube salmon (Hucho hucho), presently characteristic for the Mur River, would be superceded by other species. Native brown trout (Salmo trutta), already now under pressure of competition, may be at risk of losing its habitat in favour of invaders like the exotic rainbow trout (Oncorhynchus mykiss), which are better adapted to higher water temperatures. Projected changes in fish communities suggest an adverse influence on salmonid sport fishing and a loss in its high economic value.

IGF2 gene characterization and association with rib eye area in beef cattle.

Insulin-like growth factor 2 (IGF2) is an imprinted gene expressed in most tissues affecting lean muscle content in mice, pigs and cattle. We previously identified the bovine IGF2 c.-292C>T SNP in the non-translated exon 2. Using this SNP, we demonstrated biallelic expression of IGF2 after birth. Seven alternatively spliced mRNA transcripts of IGF2 were expressed among 15 tissues. An IGF2 pseudogene (psiIGF2) was identified with sequence identical to at least IGF2 exons 2 and 3 without the intervening intron. The biallelic expression of this c.-292C>T SNP was associated with an increase in rib eye area (REA) in two populations of cattle, with the C.-292C allele associated with a 10% increase. A significant association with per cent fat was found in one of the populations.

The scurs locus in cattle maps to bovine chromosome 19.

Polled, or the absence of horns, is a desirable trait for many cattle breeders. However, the presence of scurs, which are small horn-like structures that are not attached to the skull, can lower the value of an animal. The scurs trait has been reported as sex influenced. Using a genome scan with 162 autosomal microsatellite markers genotyped across three full-sib families, the scurs locus was mapped near BMS2142 on cattle chromosome 19 (LOD = 4.21). To more precisely map scurs, the families from the initial analysis and three additional families were genotyped for 16 microsatellite markers and SNPs in three genes on chromosome 19. In this subsequent analysis, the scurs locus was mapped 4 cM distal of BMS2142 (LOD = 4.46) and 6 cM proximal to IDVGA46 (LOD = 2.56). ALOX12 and MFAP4 were the closest genes proximal and distal, respectively, to the scurs locus. Three microsatellite markers on the X chromosome were genotyped across these six families but were not linked to scurs, further demonstrating that this trait was not sex linked. Because the polled locus has been mapped to the centromeric end of chromosome 1 and scurs has now been mapped to chromosome 19, these two traits are not linked in Bos taurus.

Hot topic: an association between a leptin single nucleotide polymorphism and milk and protein yield.

Allelic variation (C to T transition that results in an Arg25Cys) in the leptin gene has been associated with increased fat deposition in beef cattle. We report that this same genetic variant is also present in dairy breeds. Body fat reserves play an important role in sustaining high milk production in early lactation, when energy intake is limited. To test for an association between the leptin single nucleotide polymorphism and milk productivity, we genotyped 416 Holstein cows and compared lactation performance data using a mixed model. Animals homozygous for the T allele produced more milk (1.5 kg/d vs. CC animals) and had higher somatic cell count linear scores, without significantly affecting milk fat or protein percent over the entire lactation. The increase in milk yield is most prominent in the first 100 d of lactation (2.44 kg/d), declining to 1.74 kg/d between 101 and 200 d in lactation. The milk yield advantage, observed in cows homozygous for the T allele, could represent a major economic advantage to dairy producers.

TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow?

Tyrosinase related protein 1 (TYRP1), which is involved in the coat colour pathway, was mapped to BTA8 between microsatellites BL1080 and BM4006, using a microsatellite in intron 5 of TYRP1. The complete coding sequence of bovine TYRP1 was determined from cDNA derived from skin biopsies of cattle with various colours. Sequence data from exons 2-8 from cattle with diluted phenotypes was compared with that from non-diluted phenotypes. In addition, full-sib families of beef cattle generated by embryo transfer and half-sib families from traditional matings in which coat colour was segregating were used to correlate TYRP1 sequence variants with dilute coat colours. Two non-conservative amino acid changes were detected in Simmental, Charolais and Galloway cattle but these polymorphisms were not associated with diluted shades of black or red, nor with the dun coat colour of Galloway cattle or the taupe brown colour of Braunvieh and Brown Swiss cattle. However, in Dexter cattle all 25 cattle with a dun brown coat colour were homozygous for a H424Y change. One Dexter that was also homozygous Y434 was red because of an "E+/E+" genotype at MC1R which lead to the production of only phaeomelanin. None of the 70 remaining black or red Dexter cattle were homozygous for Y434. This tyrosine mutation was not found in any of the 121 cattle of other breeds that were examined.

MC1R studies in dogs with melanistic mask or brindle patterns.

Black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic muzzle which may extend up onto the ears. Melanistic mask is inherited in several breeds as an autosomal dominant trait, and appears to be a fixed trait in a few breeds of dogs. A MC1R nonsense mutation, R306ter, has been shown to cause a completely red or yellow coat color in certain breeds such as Irish setters, yellow Labrador retrievers, and golden retrievers. The amino acid sequence for the melanocortin receptor 1 gene (MC1R) was examined in 17 dogs with melanistic masks from seven breeds, 19 dogs without melanistic masks, and 7 dogs in which their coat color made the mask difficult to distinguish. We also examined nine brindle dogs of four breeds, including three dogs who also had a black mask. No consistent amino acid change was observed in the brindle dogs. All dogs with a melanistic mask had at least one copy of a valine substitution for methionine at amino acid 264 (M264V) and none were homozygous for the premature stop codon (R306ter). These results suggest that black mask, but not brindle, is caused by a specific MC1R allele.

Consensus and comprehensive linkage maps of bovine chromosome 24.

This study describes development of a consensus genetic linkage map of bovine chromosome 24 (BTA24). Eight participating laboratories contributed data for 58 unique markers including a total of 25 409 meioses. Eighteen markers, which were typed in more than one reference population, were used as potential anchors to generate a consensus framework map. The framework map contained 16 loci ordered with odds greater than 1000:1 and spanned 79.3 cM. Remaining markers were included in a comprehensive map relative to these anchors. The resulting BTA24 comprehensive map was 98.3 cM in length. Average marker intervals were 6.1 and 2.5 cM for framework and comprehensive maps, respectively. Marker order was generally consistent with previously reported BTA24 linkage maps. Only one discrepancy was found when comparing the comprehensive map with the published USDA-MARC linkage map. Integration of genetic information from different maps provides a high-resolution BTA24 linkage map.