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1.
Animals (Basel) ; 14(19)2024 Sep 29.
Article in English | MEDLINE | ID: mdl-39409761

ABSTRACT

Pulmonary hypoplasia with anasarca, or hydrops fetalis, is characterized by stillbirth, diffuse oedema, and generalized lymph node hypoplasia. The enlarged fetus frequently causes dystocia. The disease has been reported in cattle and sheep as an inherited condition with a recessive mode of inheritance. This is the first report of the disease in Persian/Persian-cross sheep in Australia. Affected fetuses were reported from three flocks, and a total of eleven affected, eleven obligate carrier, and 188 related Persian/Persian-cross animals were available for analysis, as well as unrelated control animals. SNP genotyping revealed a region of homozygosity in affected animals on ovine chromosome six, which contained the functional candidate gene ADAMTS3. Whole genome sequencing of two affected fetuses and one obligate carrier ewe revealed a single nucleotide deletion, ENSOARG00000013204:g.87124344delC, located 3 bp downstream from a donor splice site region in the ADAMTS3 gene. Sanger sequencing of cDNA containing this variant further revealed that it is likely to introduce an early splice site in exon 14, resulting in a loss of 6 amino acids at the junction of exon 14 and intron 14/15. A genotyping assay was developed, and the ENSOARG00000013204:g.87124344delC segregated with disease in 209 animals, allowing for effective identification of carrier animals.

2.
Genes (Basel) ; 15(9)2024 Sep 18.
Article in English | MEDLINE | ID: mdl-39336809

ABSTRACT

(1) Background: Target capture sequencing (TCS) is potentially a cost-effective way to detect single-nucleotide polymorphisms (SNPs) and an alternative to SNP array-based genotyping. (2) Methods: We evaluated the effectiveness and reliability of TCS in cattle breeding scenarios using 48 female and 8 male samples. DNA was extracted from blood samples, targeted for 71,746 SNPs with TWIST probes, and sequenced on an MGI platform. GATK and BCFtools were evaluated for the best genotyping calling tool. The genotypes were compared to existing genotypes from the Versa50K SNP array of the same animals by measuring accuracy as concordance (%) and R2. (3) Results: In this study, 71,553 SNPs and 166 indels were identified. The genotype comparison of 37,130 common SNPs between TCS and SNP arrays yielded high agreement, with a mean concordance of 98%, R2 of 0.98 and Cohen's kappa of 0.97. The concordances of sex prediction, parent verification and validation of five genotype markers of interest important for Wagyu breeding were 100% between TCS and SNP array. The elements of the genomic relationship matrix (GRM) constructed from the SNP array and TCS data demonstrated a correlation coefficient approaching unity (r = 0.9998). (4) Conclusions: Compared to the SNP array, TCS is a comparable, cost-effective and flexible platform for genotyping SNPs, including non-model organisms and underrepresented commercial animal populations.


Subject(s)
Genotyping Techniques , Polymorphism, Single Nucleotide , Animals , Cattle/genetics , Polymorphism, Single Nucleotide/genetics , Genotyping Techniques/methods , Female , Male , Genotype , Breeding/methods , Sequence Analysis, DNA/methods , High-Throughput Nucleotide Sequencing/methods
3.
Genes (Basel) ; 15(9)2024 Sep 18.
Article in English | MEDLINE | ID: mdl-39336812

ABSTRACT

(1) Background: Genotype-by-environment interaction (G×E) can adversely impact genetic improvement programs. The presence of G×E is mainly measured as the genetic correlation between the same trait measured in different environments where departure from unity can be taken as presence of G×E. (2) Methods: To understand the extent of G×E in shrimp production, a review and meta-analysis was conducted using the results from 32 peer-reviewed studies. (3) Results: Of these, 22 G×E studies were conducted on Pacific white shrimp (Litopenaeus vannamei) with fewer studies reported in other shrimp species. The most frequently studied traits were growth and survival, with relatively few studies on traits of economic importance. The meta-analysis demonstrated a moderately high genetic correlation (rg = 0.72 ± 0.05) for growth, indicating low to moderate levels of G×E with some re-ranking of breeding values across environments. However, substantial G×E was evident for survival where only a moderate genetic correlation (rg = 0.58 ± 0.07) was observed for survival across different environments. A re-ranking of breeding values is likely for this trait and genetic improvement of shrimp for survival in one environment may not be effective in other environments. The results from ANOVA-based studies show that G×E accounted for 6.42 ± 1.05% and 7.13 ± 3.46% of the variation for growth and survival traits, respectively. (4) Conclusion: The significance of G×E necessitates tailored genetic improvement programs in commercial shrimp breeding. We discuss the scope and challenges of G×E for shrimp breeding programs, including opportunities of implementing G×E in genomic selection programs.


Subject(s)
Breeding , Gene-Environment Interaction , Genotype , Penaeidae , Animals , Penaeidae/genetics , Penaeidae/growth & development , Aquaculture/methods
4.
Gigascience ; 132024 Jan 02.
Article in English | MEDLINE | ID: mdl-39250077

ABSTRACT

More people in the world depend on water buffalo for their livelihoods than on any other domesticated animals, but its genetics is still not extensively explored. The 1000 Buffalo Genomes Project (1000BGP) provides genetic resources for global buffalo population study and tools to breed more sustainable and productive buffaloes. Here we report the most contiguous swamp buffalo genome assembly (PCC_UOA_SB_1v2) with substantial resolution of telomeric and centromeric repeats, ∼4-fold more contiguous than the existing reference river buffalo assembly and exceeding a recently published male swamp buffalo genome. This assembly was used along with the current reference to align 140 water buffalo short-read sequences and produce a public genetic resource with an average of ∼41 million single nucleotide polymorphisms per swamp and river buffalo genome. Comparison of the swamp and river buffalo sequences showed ∼1.5% genetic differences, and estimated divergence time occurred 3.1 million years ago (95% CI, 2.6-4.9). The open science model employed in the 1000BGP provides a key genomic resource and tools for a species with global economic relevance.


Subject(s)
Buffaloes , Genetic Variation , Genome , Polymorphism, Single Nucleotide , Buffaloes/genetics , Animals , Rivers , Genomics/methods , Phylogeny
5.
Vet Sci ; 10(12)2023 Dec 14.
Article in English | MEDLINE | ID: mdl-38133254

ABSTRACT

Lymphoma is the most common haematological malignancy affecting dogs and has a high incidence in the Bullmastiff breed. The aim of this study was to identify risk loci predisposing this breed to the disease. The average age of lymphoma diagnosis in 55 cases was less than 6 years, similar to the median age of 64 cases from our clinical and pathology databases. When fine-scale population structure was explored using NETVIEW, cases were distributed throughout an extended pedigree. When genotyped cases (n = 49) and dogs from the control group (n = 281) were compared in a genome-wide association analysis of lymphoma risk, the most prominent associated regions were detected on CFA13 and CFA33. The top SNPs in a 5.4 Mb region on CFA13 were significant at a chromosome-wide level, and the region was fine-mapped to ~1.2 Mb (CFA13: 25.2-26.4 Mb; CanFam3.1) with four potential functional candidates, including the MYC proto-oncogene bHLH transcription factor (MYC) and a region syntenic with the human and mouse lncRNA Pvt1 oncogene (PVT1). A 380 Kb associated region at CFA33: 7.7-8.1 Mb contained the coding sequence for SUMO specific peptidase7 (SENP7) and NFK inhibitor zeta (NFKBIZ) genes. These genes have annotations related to cancer, amongst others, and both have functional links to MYC regulation. Genomic signatures identified in lymphoma cases suggest that increased risk contributed by the regions identified by GWAS may complement a complex predisposing genetic background.

6.
Anim Biosci ; 36(7): 1010-1021, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36397694

ABSTRACT

OBJECTIVE: Growth performance and growth-related traits have a crucial role in livestock due to their influence on productivity. This genome-wide association study (GWAS) in Pakistani dromedary camels was conducted to identify single nucleotide polymorphisms (SNPs) associated with growth at specific camel ages, and for selected SNPs, to investigate in detail how their effects change with increasing camel age. This is the first GWAS conducted on dromedary camels in this region. METHODS: Two Pakistani breeds, Marecha and Lassi, were selected for this study. A genotypingby-sequencing method was used, and a total of 65,644 SNPs were identified. For GWAS, weight records data with several body weight traits, namely, birthweight, weaning weight, and weights of camels at 1, 2, 4, and 6 years of age were analysed by using model-based growth curve analysis. Age-specific weight data were analysed with a linear mixed model that included fixed effects of SNP genotype as well as sex. RESULTS: Based on the q-value method for false discovery control, for Marecha camels, five SNPs at q<0.01 and 96 at q<0.05 were significantly associated with the weight traits considered, while three (q<0.01) and seven (q<0.05) SNP associations were identified for Lassi camels. Several candidate genes harbouring these SNP were discovered. CONCLUSION: These results will help to better understand the genetic architecture of growth including how these genes are expressed at different phases of their life. This will serve to lay the foundations for applied breeding programs of camels by allowing the genetic selection of superior animals.

7.
Front Genet ; 13: 1007123, 2022.
Article in English | MEDLINE | ID: mdl-36338959

ABSTRACT

The black tiger shrimp, Penaeus monodon, is the second most economically important aquaculture shrimp species in the world, and in Australia it is one of the most commonly farmed shrimp species. Despite its economic significance, very few studies have reported the genetic evaluation of economically important morphological size and shape traits of shrimp grown in commercial grow-out environments. In this study we obtained genetic parameter estimates and evaluated genotype-by-environment interaction (GxE) for nine body morphological traits of shrimp derived from images. The data set contained image and body weight (BW) records of 5,308 shrimp, from 64 sires and 54 dams, reared in eight grow-out ponds for an average of 133 days. From the images, landmark based morphological distances were computed from which novel morphological traits associated with size and shape were derived for genetic evaluation. These traits included body weight (BW), body length (BL), body size (BS), head size (HS), Abdominal size (AS), abdominal percentage (AP), tail tip (TT), front by back ratio (FBR), condition factor (CF) and condition factor length (CFL). We also evaluated G×E interaction effects of these traits for shrimp reared in different ponds. The heritability estimates for growth related morphological and body weight traits were moderately high (BW: h 2 = 0.32 ± 0.05; BL: h 2 = 0.36 ± 0.06; BS: h 2 = 0.32 ± 0.05; HS: h 2 = 0.31 ± 0.05; AS: h 2 = 0.32 ± 0.05; and TT: h 2 = 0.28 ± 0.05) and low for abdominal percentage and body shape traits (AP: h 2 = 0.09 ± 0.02; FBR: h 2 = 0.08 ± 0.02; CF: h 2 = 0.06 ± 0.02; and CFL: h 2 = 0.003 ± 0.004). G × E interaction were negligible for all traits for shrimp reared in different ponds, suggesting re-ranking is not prevalent for this population. Genetic correlations among growth related morphological traits were high ranging from 0.36 to 0.99, suggesting these traits can be simultaneously improved through indirect genetic selection. However, negative genetic correlations were observed for FBR & CF shape traits with major growth traits (ranged -0.08 to -0.95), suggesting genetic selection for rapid growth will likely result in thick/fatty shrimp over generations. Our study showed image-based landmark data can be successfully employed for genetic evaluation of complex morphological traits of shrimp and is potentially amenable to machine-learning derived parameters in semi-automated high volume phenotyping systems needed under commercial conditions.

8.
Front Genet ; 13: 1002346, 2022.
Article in English | MEDLINE | ID: mdl-36263423

ABSTRACT

Black tiger shrimp (Penaeus monodon) is the second most important aquaculture species of shrimp in the world. In addition to growth traits, uncooked and cooked body color of shrimp are traits of significance for profitability and consumer acceptance. This study investigated for the first time, the phenotypic and genetic variances and relationships for body weight and body color traits, obtained from image analyses of 838 shrimp, representing the progeny from 55 sires and 52 dams. The color of uncooked shrimp was subjectively scored on a scale from 1 to 4, with "1" being the lightest/pale color and "4" being the darkest color. For cooked shrimp color, shrimp were graded firstly by subjective scoring using a commercial grading score card, where the score ranged from 1 to 12 representing light to deep coloration which was subsequently found to not be sufficiently reliable with poor repeatability of measurement (r = 0.68-0.78) Therefore, all images of cooked color were regraded on a three-point scale from brightest and lightest colored cooked shrimp, to darkest and most color-intense, with a high repeatability (r = 0.80-0.92). Objective color of both cooked and uncooked color was obtained by measurement of RGB intensities (values range from 0 to 255) for each pixel from each shrimp. Using the "convertColor" function in "R", the RGB values were converted to L*a*b* (CIE Lab) systems of color properties. This system of color space was established in 1976, by the International Commission of Illumination (CIE) where "L*" represents the measure of degree of lightness, values range from 0 to 100, where 0 = pure black and 100 = pure white. The value "a*" represents red to green coloration, where a positive value represents the color progression towards red and a negative value towards green. The value "b*" represents blue to yellow coloration, where a positive value refers to more yellowish and negative towards the blue coloration. In total, eight color-related traits were investigated. An ordinal mixed (threshold) model was adopted for manually (subjectively) scored color phenotypes, whereas all other traits were analyzed by linear mixed models using ASReml software to derive variance components and estimated breeding values (EBVs). Moderate to low heritability estimates (0.05-0.35) were obtained for body color traits. For subjectively scored cooked and uncooked color, EBV-based selection would result in substantial genetic improvement in these traits. The genetic correlations among cooked, uncooked and body weight traits were high and ranged from -0.88 to 0.81. These suggest for the first time that 1) cooked color can be improved indirectly by genetic selection based on color of uncooked/live shrimp, and 2) intensity of coloration is positively correlated with body weight traits and hence selection for body weight will also improve color traits in this population.

9.
Anim Biosci ; 35(10): 1499-1511, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35507849

ABSTRACT

OBJECTIVE: This study was aimed to estimate the genetic parameters, including genetic and phenotypic correlations, of milk yield, lactation curve traits and milk composition of Thai dairy cattle from three government research farms. METHODS: The data of 25,789 test-day milk yield and milk composition records of 1,468 cattle from lactation 1 to 3 of Holstein Friesian (HF) and crossbred HF dairy cattle calved between 1990 and 2015 from three government research farms in Thailand were analysed. 305-day milk yield was estimated by the Wood model and a test interval method. The Wood model was used for estimating cumulative 305-day milk yield, peak milk yield, days to peak milk yield and persistency. Genetic parameters were estimated using linear mixed models with herd, breed group, year and season of calving as fixed effects, and animals linked to a pedigree as random effects, together with a residual error. Univariate models were used to estimate variance components, heritability, estimated breeding values (EBVs) and repeatability of each trait, while pairwise bivariate models were used to estimate covariance components and correlations between traits in the same lactation and in the same trait across lactations. RESULTS: The heritability of 305-day milk yield, peak milk yield and protein percentage have moderate to high estimates ranging from 0.19 to 0.45 while days to peak milk yield, persistency and fat percentage have low heritability ranging from 0.08 to 0.14 in lactation 1 cows. Further, heritability of most traits considered was higher in lactation 1 compared with lactations 2 and 3. For cows in lactation 1, high genetic correlations were found between 305-day milk yield and peak milk yield (0.86±0.07) and days to peak milk yield and persistency (0.99±0.02) while estimates of genetic correlations between the remaining traits were imprecise due to the high standard errors. The genetic correlations within the traits across lactation were high. There was no consistent trend of EBVs for most traits in the first lactation over the study period. CONCLUSION: Both the Wood model and test interval method can be used for milk yield estimates in these herds. However, the Wood model has advantages over the test interval method as it can be fitted using fewer test-day records and the estimated model parameters can be used to derive estimates of other lactation curve parameters. Milk yield, peak milk yield and protein percentage can be improved by a selection and mating program while days to peak milk yield, persistency and fat percentage can be improved by including into a selection index.

11.
R Soc Open Sci ; 9(3): 210558, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35308631

ABSTRACT

The Arabian oryx was the first species to be rescued from extinction in the wild by the concerted efforts of captive programmes in zoos and private collections around the world. Reintroduction efforts have used two main sources: the 'World Herd', established at the Phoenix Zoo, and private collections in Saudi Arabia. The breeding programme at the Al-Wusta Wildlife Reserve (WWR) in Oman has played a central role in the rescue of the oryx. Individuals from the 'World Herd' and the United Arab Emirates have been the main source for the WWR programme. However, no breeding strategies accounting for genetic diversity have been implemented. To address this, we investigated the diversity of the WWR population and historical samples using mitochondrial DNA (mtDNA) and single nucleotide polymorphisms (SNPs). We found individuals at WWR contain 58% of the total mtDNA diversity observed globally. Inference of ancestry and spatial patterns of SNP variation shows the presence of three ancestral sources and three different groups of individuals. Similar levels of diversity and low inbreeding were observed between groups. We identified individuals and groups that could most effectively contribute to maximizing genetic diversity. Our results will be valuable to guide breeding and reintroduction programmes at WWR.

12.
G3 (Bethesda) ; 12(4)2022 04 04.
Article in English | MEDLINE | ID: mdl-35143647

ABSTRACT

Shrimp are a valuable aquaculture species globally; however, disease remains a major hindrance to shrimp aquaculture sustainability and growth. Mechanisms mediated by endogenous viral elements have been proposed as a means by which shrimp that encounter a new virus start to accommodate rather than succumb to infection over time. However, evidence on the nature of such endogenous viral elements and how they mediate viral accommodation is limited. More extensive genomic data on Penaeid shrimp from different geographical locations should assist in exposing the diversity of endogenous viral elements. In this context, reported here is a PacBio Sequel-based draft genome assembly of an Australian black tiger shrimp (Penaeus monodon) inbred for 1 generation. The 1.89 Gbp draft genome is comprised of 31,922 scaffolds (N50: 496,398 bp) covering 85.9% of the projected genome size. The genome repeat content (61.8% with 30% representing simple sequence repeats) is almost the highest identified for any species. The functional annotation identified 35,517 gene models, of which 25,809 were protein-coding and 17,158 were annotated using interproscan. Scaffold scanning for specific endogenous viral elements identified an element comprised of a 9,045-bp stretch of repeated, inverted, and jumbled genome fragments of infectious hypodermal and hematopoietic necrosis virus bounded by a repeated 591/590 bp host sequence. As only near complete linear ∼4 kb infectious hypodermal and hematopoietic necrosis virus genomes have been found integrated in the genome of P. monodon previously, its discovery has implications regarding the validity of PCR tests designed to specifically detect such linear endogenous viral element types. The existence of joined inverted infectious hypodermal and hematopoietic necrosis virus genome fragments also provides a means by which hairpin double-stranded RNA could be expressed and processed by the shrimp RNA interference machinery.


Subject(s)
Densovirinae , Penaeidae , Animals , Australia , Densovirinae/genetics , Genome, Viral , Penaeidae/genetics , Polymerase Chain Reaction
13.
Sci Rep ; 12(1): 2454, 2022 02 14.
Article in English | MEDLINE | ID: mdl-35165362

ABSTRACT

COVID-19 has affected all countries. Its containment represents a unique challenge for India due to a large population (> 1.38 billion) across a wide range of population densities. Assessment of the COVID-19 disease burden is required to put the disease impact into context and support future pandemic policy development. Here, we present the national-level burden of COVID-19 in India in 2020 that accounts for differences across urban and rural regions and across age groups. Input data were collected from official records or published literature. The proportion of excess COVID-19 deaths was estimated using the Institute for Health Metrics and Evaluation, Washington data. Disability-adjusted life years (DALY) due to COVID-19 were estimated in the Indian population in 2020, comprised of years of life lost (YLL) and years lived with disability (YLD). YLL was estimated by multiplying the number of deaths due to COVID-19 by the residual standard life expectancy at the age of death due to the disease. YLD was calculated as a product of the number of incident cases of COVID-19, disease duration and disability weight. Scenario analyses were conducted to account for excess deaths not recorded in the official data and for reported COVID-19 deaths. The direct impact of COVID-19 in 2020 in India was responsible for 14,100,422 (95% uncertainty interval [UI] 14,030,129-14,213,231) DALYs, consisting of 99.2% (95% UI 98.47-99.64%) YLLs and 0.80% (95% UI 0.36-1.53) YLDs. DALYs were higher in urban (56%; 95% UI 56-57%) than rural areas (44%; 95% UI 43.4-43.6) and in men (64%) than women (36%). In absolute terms, the highest DALYs occurred in the 51-60-year-old age group (28%) but the highest DALYs per 100,000 persons were estimated for the 71-80 years old age group (5481; 95% UI 5464-5500 years). There were 4,815,908 (95% UI 4,760,908-4,924,307) DALYs after considering reported COVID-19 deaths only. The DALY estimations have direct and immediate implications not only for public policy in India, but also internationally given that India represents one sixth of the world's population.


Subject(s)
COVID-19/prevention & control , Disability-Adjusted Life Years , Public Health/statistics & numerical data , Quality-Adjusted Life Years , Adolescent , Adult , Aged , Aged, 80 and over , COVID-19/epidemiology , COVID-19/virology , Child , Female , Humans , India/epidemiology , Male , Middle Aged , Pandemics/prevention & control , Public Health/methods , Rural Population/statistics & numerical data , SARS-CoV-2/physiology , Urban Population/statistics & numerical data , Young Adult
15.
Prev Vet Med ; 189: 105291, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33582551

ABSTRACT

Bovine brucellosis is a neglected zoonotic disease prevalent in several developing countries including India. It has been successfully controlled in many developed countries by using vaccination in conjunction with extensive surveillance and test-and-cull approaches, but some of these approaches do not suit Indian culture and norms. This study was conducted to investigate the feasibility and social acceptability of various bovine brucellosis control strategies in India. Focus group discussions and key-informant interviews were conducted with veterinarians, para-veterinarians, veterinary academics, farmers and other stakeholders. Vaccination with the Brucella strain 19 vaccine was considered feasible, but the participants were concerned about the risk of self-inoculation, the inability to vaccinate pregnant and male animals, the difficulty to differentiate vaccinated from diseased animals and the challenges of maintaining the vaccine cold chain in India. As expected, the test-and-cull approach was not considered feasible as cattle are considered sacred by Hindus and their slaughter is banned in most states. Although the test-and-segregation approach appears reasonable in theory, it would have low acceptability, if implemented without providing any compensation to farmers. Negligible biosecurity was implemented by farmers: almost no biosecurity procedures were performed for visitors entering a farm, and testing of animals was rarely undertaken before introducing them to a farm. However, the participants considered that improving biosecurity would be more acceptable and feasible than both the test-and-cull and the test-and-segregation approaches. Similarly, inadequate personal protection was used by veterinary personnel for handling parturition, retention of placenta and abortion cases; this was considered as another area of possible improvement. Farmers and veterinarians expressed serious concerns about stray cattle as many of them could potentially be infected with brucellosis, and thus could spread the infection between farms. This study recommends using vaccination and biosecurity along with some ancillary strategies to control brucellosis in India. Information from the study could be used to develop an evidence-based disease control program for the disease in the country.


Subject(s)
Brucellosis, Bovine , Communicable Disease Control/methods , Abortion, Veterinary , Animals , Brucellosis, Bovine/prevention & control , Cattle , Farmers , Feasibility Studies , Female , Humans , India , Male , Pregnancy , Vaccination/veterinary
16.
PLoS One ; 15(9): e0238697, 2020.
Article in English | MEDLINE | ID: mdl-32970694

ABSTRACT

Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves. After a preliminary diagnosis of Niemann-Pick type C, samples from two affected calves and two obligate carriers were analysed using single nucleotide polymorphism genotyping and homozygosity mapping, and NPC1 was considered as a positional candidate gene. A likely causal missense variant on chromosome 24 in the NPC1 gene (NM_174758.2:c.2969C>G) was identified by Sanger sequencing of cDNA. SIFT analysis, protein alignment and protein modelling predicted the variant to be deleterious to protein function. Segregation of the variant with disease was confirmed in two additional affected calves and two obligate carrier dams. Genotyping of 403 animals from the original herd identified an estimated allele frequency of 3.5%. The Niemann-Pick type C phenotype was additionally confirmed via biochemical analysis of Lysotracker Green, cholesterol, sphingosine and glycosphingolipids in fibroblast cell cultures originating from two affected calves. The identification of a novel missense variant for Niemann-Pick type C disease in Angus/Angus-cross cattle will enable improved breeding and management of this disease in at-risk populations. The results from this study offer a unique opportunity to further the knowledge of human Niemann-Pick type C disease through the potential availability of a bovine model of disease.


Subject(s)
Niemann-Pick Disease, Type C/genetics , Niemann-Pick Disease, Type C/pathology , Amino Acid Sequence , Animals , Base Sequence , Cattle , Cells, Cultured , Cholera Toxin/metabolism , Cholesterol/metabolism , DNA, Complementary/genetics , Disease Models, Animal , Fibroblasts/pathology , G(M1) Ganglioside/metabolism , Homozygote , Mutation/genetics , Niemann-Pick C1 Protein/chemistry , Niemann-Pick C1 Protein/genetics , Phenotype , Polymorphism, Single Nucleotide/genetics , Polysaccharides/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism
17.
BMC Genomics ; 21(1): 541, 2020 Aug 05.
Article in English | MEDLINE | ID: mdl-32758142

ABSTRACT

BACKGROUND: The development of genome-wide genotyping resources has provided terrestrial livestock and crop industries with the unique ability to accurately assess genomic relationships between individuals, uncover the genetic architecture of commercial traits, as well as identify superior individuals for selection based on their specific genetic profile. Utilising recent advancements in de-novo genome-wide genotyping technologies, it is now possible to provide aquaculture industries with these same important genotyping resources, even in the absence of existing genome assemblies. Here, we present the development of a genome-wide SNP assay for the Black Tiger shrimp (Penaeus monodon) through utilisation of a reduced-representation whole-genome genotyping approach (DArTseq). RESULTS: Based on a single reduced-representation library, 31,262 polymorphic SNPs were identified across 650 individuals obtained from Australian wild stocks and commercial aquaculture populations. After filtering to remove SNPs with low read depth, low MAF, low call rate, deviation from HWE, and non-Mendelian inheritance, 7542 high-quality SNPs were retained. From these, 4236 high-quality genome-wide loci were selected for baits-probe development and 4194 SNPs were included within a finalized target-capture genotype-by-sequence assay (DArTcap). This assay was designed for routine and cost effective commercial application in large scale breeding programs, and demonstrates higher confidence in genotype calls through increased call rate (from 80.2 ± 14.7 to 93.0% ± 3.5%), increased read depth (from 20.4 ± 15.6 to 80.0 ± 88.7), as well as a 3-fold reduction in cost over traditional genotype-by-sequencing approaches. CONCLUSION: Importantly, this assay equips the P. monodon industry with the ability to simultaneously assign parentage of communally reared animals, undertake genomic relationship analysis, manage mate pairings between cryptic family lines, as well as undertake advance studies of genome and trait architecture. Critically this assay can be cost effectively applied as P. monodon breeding programs transition to undertaking genomic selection.


Subject(s)
Penaeidae , Animals , Australia , Genome , Genomics , Genotype , Penaeidae/genetics , Polymorphism, Single Nucleotide
18.
Trop Anim Health Prod ; 52(5): 2309-2317, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32157518

ABSTRACT

Camel is an important domestic animal that is well adapted to extremely harsh environments. Due to its multi-purpose role, the camel is gaining importance, particularly as a meat producer. Body weights at different ages and growth curves have been extensively studied in several livestock species. However, the information on the camel is very limited. We investigate patterns of variation in birth weight and weaning weight of two prominent breeds of camels in Pakistan, namely Marecha and Lassi. A further objective is not only to develop growth models which will account for systematic differences due to breed and sex but also to allow for individual variation in growth, by the application of appropriate statistical models. Birth weight, weaning, and monthly weights for a period of up to 48 months were recorded for each camel. Growth records of 137 camels consisting of 108 Marecha and 29 Lassi were obtained. Differences were detected between the two breeds, Marecha and Lassi, as well as differences between sexes, but only after 2 years of age. Beyond that, female Marecha camels had slower growth than males, whereas Lassi (mostly females) had faster growth than female Marechas. In addition, there is a sizable variation between individuals within the same breed-sex combination. The results of the present study will be of use to explore the potential of the camel as a meat producer in Pakistan.


Subject(s)
Camelus/growth & development , Aging , Animals , Camelus/genetics , Female , Male , Models, Biological , Pakistan
19.
Plant Physiol ; 179(4): 1362-1372, 2019 04.
Article in English | MEDLINE | ID: mdl-30593453

ABSTRACT

Unraveling and exploiting mechanisms of disease resistance in cereal crops is currently limited by their large repeat-rich genomes and the lack of genetic recombination or cultivar (cv)-specific sequence information. We cloned the first leaf rust resistance gene Rph1 (Rph1 a) from cultivated barley (Hordeum vulgare) using "MutChromSeq," a recently developed molecular genomics tool for the rapid cloning of genes in plants. Marker-trait association in the CI 9214/Stirling doubled haploid population mapped Rph1 to the short arm of chromosome 2H in a physical region of 1.3 megabases relative to the barley cv Morex reference assembly. A sodium azide mutant population in cv Sudan was generated and 10 mutants were confirmed by progeny-testing. Flow-sorted 2H chromosomes from Sudan (wild type) and six of the mutants were sequenced and compared to identify candidate genes for the Rph1 locus. MutChromSeq identified a single gene candidate encoding a coiled-coil nucleotide binding site Leucine-rich repeat (NLR) receptor protein that was altered in three different mutants. Further Sanger sequencing confirmed all three mutations and identified an additional two independent mutations within the same candidate gene. Phylogenetic analysis determined that Rph1 clustered separately from all previously cloned NLRs from the Triticeae and displayed highest sequence similarity (89%) with a homolog of the Arabidopsis (Arabidopsis thaliana) disease resistance protein 1 protein in Triticum urartu In this study we determined the molecular basis for Rph1-mediated resistance in cultivated barley enabling varietal improvement through diagnostic marker design, gene editing, and gene stacking technologies.


Subject(s)
Hordeum/physiology , Host-Pathogen Interactions , NLR Proteins/physiology , Chromosome Mapping , Genes, Plant , Plant Proteins/physiology , Sequence Analysis, DNA
20.
Sci Rep ; 8(1): 13553, 2018 09 10.
Article in English | MEDLINE | ID: mdl-30202061

ABSTRACT

The black tiger shrimp (Penaeus monodon) remains the second most widely cultured shrimp species globally; however, issues with disease and domestication have seen production levels stagnate over the past two decades. To help identify innovative solutions needed to resolve bottlenecks hampering the culture of this species, it is important to generate genetic and genomic resources. Towards this aim, we have produced the most complete publicly available P. monodon transcriptome database to date based on nine adult tissues and eight early life-history stages (BUSCO - Complete: 98.2% [Duplicated: 51.3%], Fragmented: 0.8%, Missing: 1.0%). The assembly resulted in 236,388 contigs, which were then further segregated into 99,203 adult tissue specific and 58,678 early life-history stage specific clusters. While annotation rates were low (approximately 30%), as is typical for a non-model organisms, annotated transcript clusters were successfully mapped to several hundred functional KEGG pathways. Transcripts were clustered into groups within tissues and early life-history stages, providing initial evidence for their roles in specific tissue functions, or developmental transitions. We expect the transcriptome to provide an essential resource to investigate the molecular basis of commercially relevant-significant traits in P. monodon and other shrimp species.


Subject(s)
Gene Expression Regulation, Developmental , Genome/genetics , Penaeidae/genetics , Transcriptome/genetics , Animals , Aquaculture , Gene Expression Profiling , Multigene Family/genetics , Quantitative Trait Loci/genetics , RNA, Long Noncoding/genetics
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