Molecular Characterization of Xp Chromosome Deletion in a Fertile Cow

Parma

2021

Animals

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: Cytogenetically Detectable Deletions and Duplicationsmentioning

confidence: 99%

Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

Parma

2021

Animals

“…These chromosome changes have been the result of karyotype evolution, determining several species. Furthermore, the study of chromosomes has been mainly used in animal cytogenetics to (1) verify the relationship between chromosome abnormalities and fertility [ 3 , 4 , 5 , 6 , 7 ]; (2) physically map both type I (expressed sequences) and type II (SSRs, microsatellite marker, STSs) loci, especially using fluorescence in situ hybridization (FISH) techniques [ 8 , 9 , 10 , 11 , 12 ]; (3) correctly identify the chromosomes involved in chromosomal abnormalities via chromosome banding techniques [ 13 , 14 ]; (4) reveal chromosome rearrangements occurring in some chromosomal abnormalities, especially using both FISH mapping [ 15 , 16 , 17 ] and comparative genome hybridization array (aCGH) techniques [ 18 , 19 ]; (5) compare related and unrelated genomes by using the Zoo-FISH technique [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ], centromeric SAT sequences by FISH mapping [ 29 ], or detailed FISH mapping along chromosomes [ 30 , 31 , 32 , 33 , 34 , 35 , 36 ]; and (6) test the genome stability of several bovids, including the river buffalo, with both in vitro and in vivo (natural) exposure to potential mutagens [ 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ], or affected by limb malformation...…”

Section: Introductionmentioning

confidence: 99%

The Cytogenetics of the Water Buffalo: A Review

Parma

2021

Animals

The water buffalo (Bubalus bubalis), also known as the Asian buffalo, is an essential domestic bovid. Indeed, although its world population (~209 million heads) is approximately one-ninth that of cattle, the management of this species involves a larger human population than that involved with raising cattle. Compared with cattle, water buffalo have been understudied for many years, but interest in this species has been increasing, especially considering that the world population of these bovids grows every year—particularly that of the river buffalo. There are two genera of buffalo worldwide: the Syncerus (from the African continent), and the Bubalus (from the southwest Asian continent, Mediterranean area, southern America, and Australia). All species belonging to these two genera have specific chromosome numbers and shapes. Because of such features, the study of chromosomes is a fascinating biological basis for differentiating various species (and hybrids) of buffaloes and characterizing their karyotypes in evolutionary, clinical, and molecular studies. In this review, we report an update on essential cytogenetic studies in which various buffalo species were described from evolutionary, clinical, and molecular perspectives—particularly considering the river buffalo (Bubalus bubalis 2n = 50). In addition, we show new data on swamp buffalo chromosomes.

Development of a sequential multicolor-FISH approach with 13 chromosome-specific painting probes for the rapid identification of river buffalo (Bubalus bubalis, 2n = 50) chromosomes

et al. 2014

The development of new molecular techniques (array-CGH, M-FISH, SKY-FISH, etc…) led to great 2 advancements in the whole field of molecular cytogenetic, however the application of these methods are still very 3 limited in farm animals. In the present study we report -for the first time-the production of 13 river buffalo (Bubalus 4 bubalis, 2n=50) chromosome-specific painting probes, generated via chromosome microdissection and DOP-PCR 5 procedure. A sequential multicolor-FISH approach is also proposed on the same slide for the rapid identification of 6 river buffalo chromosome/arms namely 1p-1q, 2p-2q, 3p-3q, 4p-4q, 5p-5q, 18, X and Y, using both conventional and 7 late replicating banded chromosome preparations counterstained by DAPI. The provided 'Bank' of chromosome-8 specific painting probes is useful for any further cytogenetic investigation not only for the buffalo breeds, but also for 9 other species of the family Bovidae, such as cattle, sheep and goats, for chromosome abnormality diagnosis, and, more 10 generally, for evolutionary studies.