scholarly journals Balanced Chromosomal Rearrangements Associated with Hypoprolificacy in Australian Boars (Sus scrofa domesticus)

Cells ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 2000
Author(s):  
Foyez Shams ◽  
Darryl D’Souza ◽  
Tariq Ezaz
Keyword(s):  
Reciprocal Translocation ◽  
Prevalence Rate ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Economic Losses ◽  
Founder Population ◽  
Reciprocal Translocations ◽  
Routine Monitoring ◽  
Cytogenetic Analyses ◽  
Clinical Conditions

Balanced chromosomal rearrangements, mainly reciprocal translocations, are considered to be the causative agent of several clinical conditions in farmed pigs, resulting in hypoprolificacy and economic losses. Literature suggests that reciprocal translocations are heritable and can occur de novo. The prevalence rate of these balanced structural rearrangements of chromosomes differs from country to country and varies between 0.5% and 3.3%. The Australian pig population is descendent of a small founder population and has since been a closed genetic group since the 1980s. Hence, any incident of reciprocal translocation along with the pedigree of boars that contribute sperm for artificial insemination has the potential to have an economic consequence. To date, there has been no published account for screening of reciprocal translocation associated with hypoprolificacy in the Australian pig population. In this study, we performed standard and molecular cytogenetic analyses to identify evidence of chromosome rearrangements and their association with hypoprolificacy in a representative 94 boar samples from a commercial nucleus herd. We identified three novel rearrangements between chromosomes 5 and 14, between chromosomes 9 and 10, and between chromosomes 10 and 12. In addition, we also detected a reciprocal translocation between chromosomes 3 and 16 that has previously been detected in pig herds in France. The prevalence rate was 6.38% within the samples used in this study. All four rearrangements were found to have an association with hypoprolificacy. Further study and routine monitoring will be necessary to identify any further rearrangements that will allow breeders to prevent the propagation of reciprocal translocations from generation to generation within the Australian pig population.

scholarly journals Diagnosis of De Novo Mosaic Balanced Translocation t(1;3)(q42;q25) in a Fetus Conceived Using Pre-implantation Diagnosis Due to Presence in the Father of a Different Balanced Translocation

2021 ◽  
Author(s):  
Shaoqin Zhang ◽  
jianjiang zhu ◽  
Hong Qi ◽  
Limei Xu ◽  
Lirong Cai ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Psychomotor Development ◽  
Premature Delivery ◽  
Driving Mechanism ◽  
Balanced Translocation ◽  
Translocation Carrier ◽  
Reciprocal Translocations ◽  
Str Analysis

Abstract IntroductionPreimplantation genetic testing (PGT) had widely been applied in reciprocal translocation carriers to improve the clinical outcome of assisted reproduction. De novo mosaicism balanced reciprocal translocations in fetus conceived using PGT from a balanced translocation carrier parent has been rarely reported, and the driving mechanism is not clearly. MethodsChromosomal microarray analysis (CMA) , karyotype analysis and fluorescent in situ hybridization (FISH) were performed to verify the type and heredity of the rearrangement. STR analysis was used to identify potential contamination as well as kinship verification and identification. ResultsA rare de novo mosaicism balanced reciprocal translocation t(1,3)(q42;q25) in fetus conceived using PGT-SR from a t(12;14)(q22;q13) balanced translocation carrier father was been diagnosed by multiplatform genetic techniques. At 31 weeks and 2 days of gestation, premature delivery was caused by uncontrollable uterine contractions. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. ConclusionPGT cases still need close observation in prenatal diagnosis and long-term follow-up.

scholarly journals De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Shaoqin Zhang ◽  
Jianjiang Zhu ◽  
Hong Qi ◽  
Limei Xu ◽  
Lirong Cai ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reciprocal Translocation ◽  
De Novo ◽  
Psychomotor Development ◽  
Chromosomal Microarray Analysis ◽  
Driving Mechanism ◽  
Balanced Translocation ◽  
Translocation Carrier ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations

Abstract Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype analysis and fluorescent in situ hybridization were performed to verify the type and heredity of the rearrangement. STR analysis was conducted to identify potential contamination and verify kinship. In addition, a local BLAST engine was performed to locate potentially homologous segments which might contribute to the translocation in breakpoints of chromosome. Results A rare de novo balanced reciprocal translocations mosaicism mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] was diagnosed in a fetus conceived using preimplantation genetic testing due to a 46,XY,t(12;14)(q22;q13) balanced translocation carrier father through multiplatform genetic techniques. Two of the largest continuous high homology segments were identified in chromosomal band 1q42.12 and 3q25.2. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. Conclusion We present a prenatal diagnosis of a rare de novo balanced reciprocal translocations mosaicism in a fetus who conceived by preimplantation genetic testing. The most reasonable driving mechanism was that a de novo mitotic error caused by nonallelic homologous recombination between 1q42.12 and 3q25.2 in a zygote within the first or early cell divisions, which results in a mosaic embryo with the variant present in a half proportion of cells.

scholarly journals Incidence, Reproductive Outcome, and Economic Impact of Reciprocal Translocations in the Domestic Pig

DNA ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 68-76
Author(s):  
Nicole M. Lewis ◽  
Claudia C. Rathje ◽  
Carla Canedo-Ribeiro ◽  
Lisa M. Bosman ◽  
Lucas G. Kiazim ◽  
...  
Keyword(s):  
Economic Impact ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
In Situ Hybridisation ◽  
Economic Losses ◽  
Fluorescence In Situ Hybridisation ◽  
Domestic Pig ◽  
Reciprocal Translocations ◽  
Cytogenetic Investigation

Pigs (Sus scrofa) have vast economic importance, with pork accounting for over 30% of the global meat consumption. Chromosomal abnormalities, and in particular reciprocal translocations (RTs), are an important cause of hypoprolificacy (litter size reduction) in pigs. However, these do not necessarily present with a recognizable phenotype and may cause significant economic losses for breeders when undetected. Here, we present a reappraisal of the incidence of RTs across several European pig herds, using contemporary methodology, as well as an analysis modelling the economic impact of these abnormalities. Molecular cytogenetic investigation was completed by karyotyping and/or multiprobe FISH (fluorescence in situ hybridisation) between 2016–2021, testing 2673 animals. We identified 19 types of chromosome abnormalities, the prevalence of these errors in the database was 9.1%, and the estimated incidence of de novo errors was 0.90%. Financial modelling across different scenarios revealed the potential economic impact of an undetected RT, ranging from £69,802 for an individual affected terminal boar in a commercial farm selling weaned pigs, to £51,215,378 for a genetics company with an undetected RT in a dam line boar used in a nucleus farm. Moreover, the added benefits of screening by FISH instead of karyotyping were estimated, providing a strong case for proactive screening by this approach.

scholarly journals Autosomal reciprocal translocations: prenatal selection, segregation and assessment of empirical risks for reciprocal translocation carriers of having a liveborn child with chromosome imbalance

2018 ◽  
pp. 41-49
Author(s):  
Н.В. Шилова
Keyword(s):  
Reciprocal Translocation ◽  
Chromosomal Rearrangements ◽  
Accurate Estimate ◽  
Meiotic Segregation ◽  
Reciprocal Translocations ◽  
Preferential Formation ◽  
Increased Risk ◽  
Chromosome Imbalance ◽  
Liveborn Child ◽  
Selection Of

Аутосомные реципрокные транслокации (АРТ), являются наиболее частой структурной хромосомной перестройкой. Носители АРТ имеют повышенный риск рождения детей с хромосомным дисбалансом, который может варьировать от низкого до высокого в зависимости от характеристик транслокации и типа патологической мейотической сегрегации. Целью исследования являлся анализ пренатальной селекции, мейотической сегрегации и оценка эмпирического риска рождения жизнеспособного ребенка с хромосомным дисбалансом у 49 носителей АРТ. Оценка пахитенной диаграммы проводилась для каждой транслокации на основании количественных характеристик мейотического квадривалента. Наблюдаемый и ожидаемый хромосомный дисбаланс при всех типах патологической сегрегации оценивался в процентах от гаплоидной длины аутосом. Оценка жизнеспособности плодов и потенциальных зигот с хромосомным дисбалансом проводилась с использованием модели, основанной на измерении хромосомных сегментов дистальнее точек разрывов и определении относительного размера хромосомного дисбаланса. Установлена тенденция к преимущественной пренатальной селекции зигот вследствие альтернативного типа сегрегации АРТ. Показано, что анализ количественных характеристик квадривалента и пахитенной диаграммы позволяет оценить тип патологической мейотической сегрегации, приводящей к наименьшему хромосомному дисбалансу, и риск формирования несбалансированных гамет. Определено, что оценка жизнеспособности зигот, основанная на сопоставлении относительного размера несбалансированных хромосомных сегментов, может быть дополнительным этапом при установлении повторного риска рождения ребенка с хромосомной патологией у носителей АРТ. В 80% случаев транслокаций риск рождения жизнеспособного ребенка с хромосомным дисбалансом расценивается как низкий. Мейотическая сегрегация хромосом у носителей АРТ происходит с преимущественным формированием и последующей пренатальной селекцией зигот вследствие альтернативного, непатологического типа сегрегации. Для каждой транслокации необходимо проводить оценку наиболее вероятного типа патологической сегрегации и жизнеспособности плодов или новорожденных. Эмпирический риск не может быть использован как единственный и решающий фактор при оценке повторного риска рождения жизнеспособного ребенка с хромосомным дисбалансом. Autosomal reciprocal translocations are among the most frequent chromosomal rearrangements in man. Though phenotypically normal, the carrier of reciprocal translocation may be at increased risk of having a chid with multiple malformations and mental retardation due to malsegregation at meiosis resulting in gametes with chromosome imbalance. An accurate estimate of the probability of this event is understandably desirable. Aim. The aim of this investigation was an analysis of prenatal selection, meiotic segregation and assessment of empirical risks for reciprocal translocation carriers of having a liveborn child with unbalanced karyotype on 49 reciprocal translocation carriers. Materials and Methods. The pachytene diagrams were analyzed for each translocation taking in account the exact lengths of the chromosomes involved. The observed and most probable unbalanced segments were evaluated using the Chromosome Imbalance Size-Viability Model and Surface of Viable Unbalances consisting of the measurement of chromosomal segments distal to the breakpoints expressed in percentage of haploid autosomal length - %HAL. Results. The tendency to preferential prenatal selection of zygotes is established due to the 2:2 alternate segregation. It is shown that the analysis of quantitative characteristics of quadrivalent and pachytene diagram allows to estimate the type of malsegregation producing the smallest imbalance and the risk of formation of unbalanced gametes. Evaluation of viability of zygotes may be an additional step in establishing of the recurrence risks. In 80% of cases the risk of a viable child with a chromosomal imbalance is regarded as low. Conclusions. Meiotic segregation of chromosomes in carriers of autosomal reciprocal translocations occurs with preferential formation and subsequent prenatal selection of zygotes due to alternate segregation. It is necessary to assess segregation giving the smallest imbalance and viability of the imbalance. Empirical risk was not found to be useful as a discriminating risk predictor in individual genetic counselling.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

scholarly journals Computational Analysis of African Swine Fever Virus Protein Space for the Design of an Epitope-Based Vaccine Ensemble

Pathogens ◽  
2020 ◽  
Vol 9 (12) ◽  
pp. 1078 ◽  
Author(s):  
Albert Ros-Lucas ◽  
Florencia Correa-Fiz ◽  
Laia Bosch-Camós ◽  
Fernando Rodriguez ◽  
Julio Alonso-Padilla
Keyword(s):  
T Cell ◽  
Vaccine Development ◽  
De Novo ◽  
African Swine Fever Virus ◽  
African Swine Fever ◽  
Fever Virus ◽  
Economic Losses ◽  
Virus Protein ◽  
Hemorrhagic Disease ◽  
Starting Point

African swine fever virus is the etiological agent of African swine fever, a transmissible severe hemorrhagic disease that affects pigs, causing massive economic losses. There is neither a treatment nor a vaccine available, and the only method to control its spread is by extensive culling of pigs. So far, classical vaccine development approaches have not yielded sufficiently good results in terms of concomitant safety and efficacy. Nowadays, thanks to advances in genomic and proteomic techniques, a reverse vaccinology strategy can be explored to design alternative vaccine formulations. In this study, ASFV protein sequences were analyzed using an in-house pipeline based on publicly available immunoinformatic tools to identify epitopes of interest for a prospective vaccine ensemble. These included experimentally validated sequences from the Immune Epitope Database, as well as de novo predicted sequences. Experimentally validated and predicted epitopes were prioritized following a series of criteria that included evolutionary conservation, presence in the virulent and currently circulating variant Georgia 2007/1, and lack of identity to either the pig proteome or putative proteins from pig gut microbiota. Following this strategy, 29 B-cell, 14 CD4+ T-cell and 6 CD8+ T-cell epitopes were selected, which represent a starting point to investigating the protective capacity of ASFV epitope-based vaccines.

scholarly journals Autism Spectrum Disorder in a Girl with aDe NovoX;19 Balanced Translocation

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Marcelo Razera Baruffi ◽  
Deise Helena de Souza ◽  
Rosana Aparecida Bicudo da Silva ◽  
Ester Silveira Ramos ◽  
Danilo Moretti-Ferreira
Keyword(s):  
X Chromosome ◽  
De Novo ◽  
Recurrent Miscarriage ◽  
Chromosomal Rearrangements ◽  
Position Effect ◽  
Autism Spectrum ◽  
Balanced Translocation ◽  
Replication Banding ◽  
Conventional Cytogenetic Analysis ◽  
Gonadal Dysfunction

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with ade novoX;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed ade novobalanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated withde novobalanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

scholarly journals Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

1992 ◽  
Vol 29 (4) ◽  
pp. 251-252 ◽  
Author(s):  
I D Young ◽  
J M Zuccollo ◽  
E L Maltby ◽  
N J Broderick
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Campomelic Dysplasia

scholarly journals The Genomic Architecture of a Rapid Island Radiation: Recombination Rate Variation, Chromosome Structure, and Genome Assembly of the Hawaiian Cricket Laupala

2017 ◽  
Author(s):  
Thomas Blankers ◽  
Kevin P. Oh ◽  
Aureliano Bombarely ◽  
Kerry L. Shaw
Keyword(s):  
Large Scale ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Evolutionary Genetics ◽  
Rate Variation ◽  
Linkage Maps ◽  
Recombination Rates ◽  
Behavioral Isolation ◽  
Genomic Architecture ◽  
Suppressed Recombination

ABSTRACTPhenotypic evolution and speciation depend on recombination in many ways. Within populations, recombination can promote adaptation by bringing together favorable mutations and decoupling beneficial and deleterious alleles. As populations diverge, cross-over can give rise to maladapted recombinants and impede or reverse diversification. Suppressed recombination due to genomic rearrangements, modifier alleles, and intrinsic chromosomal properties may offer a shield against maladaptive gene flow eroding co-adapted gene complexes. Both theoretical and empirical results support this relationship. However, little is known about this relationship in the context of behavioral isolation, where co-evolving signals and preferences are the major hybridization barrier. Here we examine the genomic architecture of recently diverged, sexually isolated Hawaiian swordtail crickets (Laupala). We assemble a de novo genome and generate three dense linkage maps from interspecies crosses. In line with expectations based on the species’ recent divergence and successful interbreeding in the lab, the linkage maps are highly collinear and show no evidence for large-scale chromosomal rearrangements. The maps were then used to anchor the assembly to pseudomolecules and estimate recombination rates across the genome. We tested the hypothesis that loci involved in behavioral isolation (song and preference divergence) are in regions of low interspecific recombination. Contrary to our expectations, a genomic region where a male song QTL co-localizes with a female preference QTL was not associated with particularly low recombination rates. This study provides important novel genomic resources for an emerging evolutionary genetics model system and suggests that trait-preference co-evolution is not necessarily facilitated by locally suppressed recombination.

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