Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect

Parma

2021

Animals

Self Cite

After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to find relationships between chromosome abnormalities and their phenotypic effects on animal production. Numerical abnormalities involving autosomes have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. In contrast, numerical sex chromosome abnormalities and structural chromosome anomalies have been more frequently detected in domestic bovids because they are often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape selection, with subsequent harmful effects on fertility, especially in female carriers. Chromosome abnormalities can also be easily spread through the offspring, especially when using artificial insemination. The advent of chromosome banding and FISH-mapping techniques with specific molecular markers (or chromosome-painting probes) has led to the development of powerful tools for cytogeneticists in their daily work. With these tools, they can identify the chromosomes involved in abnormalities, even when the banding pattern resolution is low (as has been the case in many published papers, especially in the past). Indeed, clinical cytogenetics remains an essential step in the genetic improvement of livestock.

Section: Numerical Chromosome Abnormalitiesmentioning

confidence: 99%

Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

Parma

2021

Animals

Self Cite

“…Hypospadias were also found in other domestic animals such as dogs, 122 cats, 123 sheep, 124 cattle, 125 and horses. 126 Moreover, polymorphisms were also found in MAMLD1 , SRD5A2 , and AR genes in hypospadias dogs.…”

Section: Other Animal Models In Studies Of the Etiology Of Hypospadiamentioning

confidence: 89%

“…15 A literature search suggests that the rabbit model is more commonly used for hypospadias repair studies, rather than for etiologic research of hypospadias. 121 Hypospadias were also found in other domestic animals such as dogs, 122 cats, 123 sheep, 124 cattle, 125 and horses. 126 Moreover, polymorphisms were also found in MAMLD1, SRD5A2, and AR genes in hypospadias dogs.…”

Section: Other Animal Models In Studies Of the Etiology Of Hypospadiasmentioning

confidence: 92%

Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models

Chang

Wang

Zheng

2020

RRU

Hypospadias is a congenital anomaly of the penis with an occurrence of approximately 1 in 200 boys, but the etiology of the majority of hypospadias has remained unknown. Numerous genes have been reported as having variants in hypospadias patients, and many studies on genetic deletion of key genes in mouse genital development have also been published. Until now, no comparative analysis in the genes related literature has been reported. The basic knowledge of penile development and hypospadias is mainly obtained from animal model studies. Understanding of the differences and similarities between human and animal models is crucial for studies of hypospadias. In this review, mutations and polymorphisms of hypospadias-related genes have been compared between humans and mice, and differential genotype–phenotype relationships of certain genes between humans and mice have been discussed using the data available in PubMed and MGI online databases, and our analysis only revealed mutations in seven out of 43 human hypospadias related genes which have been reported to show similar phenotypes in mutant mice. The differences and similarities in the processes of penile development and hypospadias malformation among human and commonly used animal models suggest that the guinea pig may be a good model to study the mechanism of human penile development and etiology of hypospadias.

“…DNA isolation was performed using protocol recommended by Children’s Hospital Oakland Research Institute (CHORI) [ 26 ]. The preparation of probes and hybridization by dual-color FISH analysis followed the protocols described by Iannuzzi et al [ 27 ].…”

Section: Methodsmentioning

confidence: 99%

Sperm Nuclei Analysis and Nuclear Organization of a Fertile Boar–Pig Hybrid by 2D FISH on Both Total and Motile Sperm Fractions

Genualdo

Turri

Pizzi

et al. 2021

Animals

Self Cite

A wide range of mammalian hybrids has recently been found by chance or through population-screening programs, but studies about their fertilizing capacity remain scarce and incomplete. Most of them are assumed to be sterile due to meiotic arrest caused by the failure of chromosome pairings. In this study, we evaluated both sperm meiotic segregation, by 2D fluorescent in situ hybridization (FISH) analysis, and sperm quality (Sperm Chromatin Structure Assay) by flow cytometer in a fertile boar–pig hybrid (2n = 37,XY) originating from a Nero Siciliano pig breed (Sus scrofa domesticus) and a wild boar (Sus scrofa ferus). Spermatozoa were also separated by a dual-layer (75–60%) discontinuous Percoll gradient, resulting in two fractions with a significantly better overall quality in the motile sperm fraction. These data were confirmed by FISH analysis also, where the frequencies of spermatozoa with a regular chromosome composition were 27% in total sperm fraction and 64% in motile sperm fraction. We also evaluated the nuclear architecture in all counted spermatozoa, showing a chromatin distribution changing when chromosome abnormalities occur. Our results demonstrate that the chromosome pairing has a minimal effect on the sperm segregation and semen quality of a boar–pig hybrid, making it fertile and harmful for the conservation of autochthonous pig breeds.