175 Testis-Specific Protein Y Encoded Copy Number Variation in In Vitro-Produced Bovine Early Embryos

2018 ◽  
Vol 30 (1) ◽  
pp. 227
Author(s):  
N.Y. Rho ◽  
L. A. Favetta ◽  
T. Mogas ◽  
W. A. King
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Specific Protein ◽  
Development Rate ◽  
Male Reproduction ◽  
Cell Stage ◽  
Early Embryos ◽  
Number Variation ◽  
Developmental Rates

Testis-specific protein Y (TSPY) is one of the genes located in the male-specific region of the Y chromosome involved in male reproduction, particularly in spermatogenesis. It has been shown to have different copy number (CN) in different species, in different individuals within a species and in the same family (i.e. among brothers from the same father). Previous studies from our laboratory in the bovine species showed that different TSPY CN was correlated with fertility, as bulls with higher CN showed higher fertility rate. In this study, we investigated development rate in in vitro-produced (IVP) bovine early embryos produced by sex-sorted semen (X and Y) from 3 bulls (1, 2, and 3) and TSPY copy number variation (CNV) in the male blastocysts. The IVP embryos by the 3 different types of semen (sub-divided: 1X, 1Y, 2X, 2Y, 3X, 3Y) and parthenotes (PART) for the negative control were assessed for developmental rates (shown in Table 1 below) and individually collected at each cell stage from zygote to blastocyst to extract DNA for TSPY CN analysis. The DNA from individual blastocysts was treated with a restriction enzyme for relative quantification of TSPY CN using digital droplet PCR (ddPCR) with SRY, known to have only one copy in bovine, as a reference gene. Developmental data showed that Y-carrying semen had higher rates both in cleavage and blastocyst compared with X-carrying semen from the same bull. Particularly, bull 3 (both 3X and 3Y) had the highest developmental rates compared with the other 2 types of bulls. TSPY was detected in male blastocyst, where both parthenotes and female embryos were negative. Relative CN of TSPY versus SRY from blastocysts produced from bulls 1, 2, and 3 averaged to 87.5, 55, and 20, respectively. Interestingly, the CN among brother blastocysts showed a variation of less than 7.5, where bull-to-bull variation was approximately from 20 to 60 copies. Our results show that TSPY CN in the embryo varies according to the sire and among brother blastocysts. Moreover, TSPY CNV among brother blastocysts allows us to speculate that individually different recombination events occurred in meiosis during spermatogenesis. Table 1.Embryo development rate by semen type This research was funded by the Canada Research Chair’s program, Natural Sciences and Engineering Research Council of Canada and the Ontario Veterinary College.

scholarly journals High-resolution genetic mapping reveals cis-regulatory and copy number variation in loci associated with cytochrome P450-mediated detoxification in a generalist arthropod pest

PLoS Genetics ◽  
2021 ◽  
Vol 17 (6) ◽  
pp. e1009422
Author(s):  
Seyedeh Masoumeh Fotoukkiaii ◽  
Nicky Wybouw ◽  
Andre H. Kurlovs ◽  
Dimitra Tsakireli ◽  
Spiros A. Pergantis ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
High Resolution ◽  
Copy Number Variation ◽  
Genetic Mapping ◽  
Copy Number ◽  
Spider Mite ◽  
Bulked Segregant Analysis ◽  
Resistant Population ◽  
Number Variation

Chemical control strategies are driving the evolution of pesticide resistance in pest populations. Understanding the genetic mechanisms of these evolutionary processes is of crucial importance to develop sustainable resistance management strategies. The acaricide pyflubumide is one of the most recently developed mitochondrial complex II inhibitors with a new mode of action that specifically targets spider mite pests. In this study, we characterize the molecular basis of pyflubumide resistance in a highly resistant population of the spider mite Tetranychus urticae. Classical genetic crosses indicated that pyflubumide resistance was incompletely recessive and controlled by more than one gene. To identify resistance loci, we crossed the resistant population to a highly susceptible T. urticae inbred strain and propagated resulting populations with and without pyflubumide exposure for multiple generations in an experimental evolution set-up. High-resolution genetic mapping by a bulked segregant analysis approach led to the identification of three quantitative trait loci (QTL) linked to pyflubumide resistance. Two QTLs were found on the first chromosome and centered on the cytochrome P450 CYP392A16 and a cluster of CYP392E6-8 genes. Comparative transcriptomics revealed a consistent overexpression of CYP392A16 and CYP392E8 in the experimental populations that were selected for pyflubumide resistance. We further corroborated the involvement of CYP392A16 in resistance by in vitro functional expression and metabolism studies. Collectively, these experiments uncovered that CYP392A16 N-demethylates the toxic carboxamide form of pyflubumide to a non-toxic compound. A third QTL coincided with cytochrome P450 reductase (CPR), a vital component of cytochrome P450 metabolism. We show here that the resistant population harbors three gene copies of CPR and that this copy number variation is associated with higher mRNA abundance. Together, we provide evidence for detoxification of pyflubumide by cytochrome P450s that is likely synergized by gene amplification of CPR.

scholarly journals The Role of Human Satellite III (1q12) Copy Number Variation in the Adaptive Response during Aging, Stress, and Pathology: A Pendulum Model

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1524
Author(s):  
Lev N. Porokhovnik ◽  
Natalia N. Veiko ◽  
Elizaveta S. Ershova ◽  
Svetlana V. Kostyuk
Keyword(s):  
Stress Response ◽  
Copy Number Variation ◽  
Copy Number ◽  
Tandem Repeats ◽  
Genotoxic Stress ◽  
Close Link ◽  
Copy Numbers ◽  
Number Variation

The pericentric satellite III (SatIII or Sat3) and II tandem repeats recently appeared to be transcribed under stress conditions, and the transcripts were shown to play an essential role in the universal stress response. In this paper, we review the role of human-specific SatIII copy number variation (CNV) in normal stress response, aging and pathology, with a focus on 1q12 loci. We postulate a close link between transcription of SatII/III repeats and their CNV. The accrued body of data suggests a hypothetical universal mechanism, which provides for SatIII copy gain during the stress response, alongside with another, more hypothetical reverse mechanism that might reduce the mean SatIII copy number, likely via the selection of cells with excessively large 1q12 loci. Both mechanisms, working alternatively like swings of the pendulum, may ensure the balance of SatIII copy numbers and optimum stress resistance. This model is verified on the most recent data on SatIII CNV in pathology and therapy, aging, senescence and response to genotoxic stress in vitro.

Copy Number Variation of Testis-Specific Protein, Y-Encoded (TSPY) in 14 Different Breeds of Cattle (Bos taurus)

2009 ◽  
Vol 3 (4) ◽  
pp. 205-213 ◽  
Author(s):  
C.K. Hamilton ◽  
L.A. Favetta ◽  
G.P. Di Meo ◽  
S. Floriot ◽  
A. Perucatti ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Bos Taurus ◽  
Specific Protein ◽  
Number Variation

scholarly journals Piperaquine Resistance Is Associated with a Copy Number Variation on Chromosome 5 in Drug-PressuredPlasmodium falciparumParasites

2011 ◽  
Vol 55 (8) ◽  
pp. 3908-3916 ◽  
Author(s):  
Richard T. Eastman ◽  
Neekesh V. Dharia ◽  
Elizabeth A. Winzeler ◽  
David A. Fidock
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Selection Pressure ◽  
Chromosome 5 ◽  
Single Nucleotide ◽  
First Line Therapy ◽  
Expression Studies ◽  
Number Variation ◽  
Emergence Of Resistance

ABSTRACTThe combination of piperaquine and dihydroartemisinin has recently become the official first-line therapy in several Southeast Asian countries. The pharmacokinetic mismatching of these drugs, whose plasma half-lives are ∼20 days and ∼1 h, respectively, implies that recrudescent or new infections emerging shortly after treatment cessation will encounter piperaquine as a monotherapy agent. This creates substantial selection pressure for the emergence of resistance. To elucidate potential resistance determinants, we subjected clonedPlasmodium falciparumDd2 parasites to continuous piperaquine pressurein vitro(47 nM; ∼2-fold higher than the Dd2 50% inhibitory concentration [IC50]). The phenotype of outgrowth parasites was assayed in two clones, revealing an IC50against piperaquine of 2.1 μM and 1.7 μM, over 100-fold greater than that of the parent. To identify the genetic determinant of resistance, we employed comparative whole-genome hybridization analysis. Compared to the Dd2 parent, this analysis found (in both resistant clones) a novel single-nucleotide polymorphism inP. falciparum crt(pfcrt), deamplification of an 82-kb region of chromosome 5 (that includespfmdr1), and amplification of an adjacent 63-kb region of chromosome 5. Continued propagation without piperaquine selection pressure resulted in “revertant” piperaquine-sensitive parasites. These retained thepfcrtpolymorphism and further deamplified the chromosome 5 segment that encompassespfmdr1; however, these two independently generated revertants both lost the neighboring 63-kb amplification. These results suggest that a copy number variation event on chromosome 5 (825600 to 888300) is associated with piperaquine resistance. Transgene expression studies are underway with individual genes in this segment to evaluate their contribution to piperaquine resistance.

scholarly journals Copy number variation of testis‐specific protein Y‐encoded (TSPY) among different breeds of cattle (Bos taurus) and related individuals

2009 ◽  
Vol 23 (S1) ◽  
Author(s):  
Christine Karin Hamilton ◽  
Laura Favetta ◽  
Giulia Pia Di Meo ◽  
Sandrine Floriot ◽  
Angela Perucatti ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Bos Taurus ◽  
Specific Protein ◽  
Number Variation ◽  
Related Individuals

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact
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