We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.

No abstract

The European ban on battery cages has forced a change towards the use of non-cage or furnished cage systems, but unexpectedly this has been associated with an increased prevalence of keel bone fractures in laying hens. Bone fractures are acutely painful in mammals, but the effect of fractures on bird welfare is unclear. We recently reported that keel bone fractures have an effect on bird mobility. One possible explanation for this is that flying becomes mechanically impaired. However it is also possible that if birds have a capacity to feel pain, then ongoing pain resulting from the fracture could contribute to decreased mobility. The aim was to provide proof of concept that administration of appropriate analgesic drugs improves mobility in birds with keel fracture; thereby contributing to the debate about the capacity of birds to experience pain and whether fractures are associated with pain in laying hens. In hens with keel fractures, butorphanol decreased the latency to land from perches compared with latencies recorded for these hens following saline (mean (SEM) landing time (seconds) birds with keel fractures treated with butorphanol and saline from the 50, 100 and 150 cm perch heights respectively 1.7 (0.3), 2.2 (0.3), p = 0.05, 50 cm; 12.5 (6.6), 16.9 (6.7), p = 0.03, 100 cm; 20.6 (7.4), 26.3 (7.6), p = 0.02 150 cm). Mobility indices were largely unchanged in birds without keel fractures following butorphanol. Critically, butorphanol can be considered analgesic in our study because it improved the ability of birds to perform a complex behaviour that requires both motivation and higher cognitive processing. This is the first study to provide a solid evidential base that birds with keel fractures experience pain, a finding that has significant implications for the welfare of laying hens that are housed in non-cage or furnished caged systems.

No abstract

Poultry production is considered one of the prospective opportunities to accomplish sustainable and quick production of superior protein to challenge the growing mandate for animal protein. Therefore, this study was aimed to explore the difference on growth performance, carcass traits, meat quality and amino acid profile of different Japanese quails strains. A total of 480 quail chicks of four different plumage colors (120 of each white, golden, gray and brown) were collected after hatching. At 6 week of age, birds were stunned and decapitated to determine the physical meat quality, thiobarbituric acid reactive substances and amino acid profile. White quails had the highest weight of slaughter, carcass, dressing, carcass yield, liver, gizzard, heart and spleen (197.27 g, 169.27 g, 91%, 82%, 6.63 g, 6.53 g, 2.27 g and 0.40 g, respectively). Also, they had the highest Ph, lightness, yellowness and water holding capacity with the lowest level of redness, cooking losses and thiobarbituric acid in pectoral (6.28, 46.40, 12,46, 22.17, 9.20, 19.21 and 0.44, respectively) and thigh muscles (6.37, 42.30, 11.51, 26.01, 10.12 and 0.93, respectively). Moreover, they possessed the highest level of all essential (11.68 and 10.16 g/100 g protein in pectoral and thigh muscles, respectively) and non essential amino acids (13.27 and 12.54 g/100 g protein in pectoral and thigh muscles, respectively). Therefore, the current study revealed that white quails had the heaviest body weight with the best carcass traits and meat quality.

No abstract

Buffalo are the second most valuable species in the world for milk production and their milk prices have been based on fat and protein composition. The aim of the paper was to compare the milk yield and composition of pure Egyptian buffalo (EB) and their crosses with the Italian buffalo and to investigate the impact of temperature humidity index (THI) on milk yield and composition under subtropical stressful conditions. 516 lactating buffalo were used (152 EB; 176 F1 crosses 50% EB and 50% Italian buffalo and 188 back cross (BC) 75% EB and 25% Italian buffalo). The results revealed that, milk yield (5·79 and 10·32%) and peak yield (6·36 and 7·67%) were significantly higher in F1 and BC than in EB, respectively. BC had 7·74 and 3·67% significantly higher daily yield when compared with EB and F1, respectively. EB were robust in the hot condition as the only reduction was in the peak of milk production from 15·02 in low THI to 13·72 kg in high THI, but fat and total solids%, were increased from 5·61 and 16·31 THI in low to 7·01 and 17·59 in high THI, respectively. BC was similar to some extent to EB as their milk was similar to EB under sever hot climate conditions (2331·92 and 2327·50 kg, respectively). A statistically significant reduction in the average daily milk yields was detected only in F1 from 10·33 to 8·38 kg in low and high THI level, respectively. The current study showed that BC produced a higher milk with higher daily average milk yield and peak yield with some evidence of robust under sever hot condition which were approximately similar to EB. Thus, it is recommended to encourage the producers to increase the number of BC animals in their farm for improving the milk production to fulfil the demand of Egyptian markets.

The current study was aimed to investigate the impact of THI on productive and reproductive indices of PE and F crosses (50% PE and 50% Italian buffaloes) and back crosses (BC) (75% PE and 25% Italian buffaloes) under hot conditions. In this study, 8385 records used PE (1914, 1518, and 1737), F (387, 447, and 657), and BC (495, 585, and 645) for low, medium, and high THI, respectively. The high THI reduced the conception rate after first insemination in PE, F, and BC ((odds ratio, OR) = 1.187, P = 0.007; 2.361, <0.0001 and 1.603, <0.0001, respectively) when compared with low THI. But, stillbirth and calving condition were not significantly influenced by different THI levels in BC and F. BC was more bearable to the harsh environment; they possessed the highest incidence of conception after first insemination (72.70, 72.60, and 62.40%), producing live calves (98.50, 100, and 99.40%) with easy calving condition (98.50, 100, and 99.40%) when compared to PE and F at different levels of THI, respectively. The average daily milk yield and peak of milk production were decreased in PE (4.02 and 5.12%), BC (13.33 and 10.95%), and F (25.29 and 12.20%) from low to high THI. However, BC revealed no significant changes in days open, dry period, calving interval, gestation length, service per conception, and the first service post-partum at different levels of THI when compared with PE and F. Therefore, rearing BC is recommended for improving buffalo productive and reproductive performance under hot conditions.