scholarly journals Copy number variation of the putative speciation genes in the European house mouse hybrid zone

2021 ◽  
Author(s):  
Alexey Yanchukov ◽  
Zusana Hiadlovska ◽  
Zeljka Pezer ◽  
Milos Macholan ◽  
Jaroslav Pialek ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
House Mouse ◽  
Hybrid Zone ◽  
Copy Number ◽  
Digital Pcr ◽  
Gene Copy ◽  
Ancestral Population ◽  
Hybrid Zones ◽  
Interaction Sites ◽  
Number Variation

Hybrid zones have long been described as "windows on the evolutionary process", and studying them has become even more important since the advance in the genome analysis tools. The hybrid zone between two subspecies of the house mouse (Mus musculus musculus and Mus m. domesticus) is a unique model speciation system to study fine scale interactions of recently diverged genomes. Here, we explore the role of gene Copy Number Variation in shaping the barrier to introgression in the hybrid zone within a previously established transect in Central Europe. The CNV of seven pre-selected candidate genes was determined via droplet-digital PCR and analyzed in the context of ~500k SNPs, with the ancestral population (i.e. musculus or domesticus) of every SNP allele previously inferred in the admixed individuals (Baird et al., in prep.). The copy numbers of five genes were clearly associated with the prevalence of either musculus or domesticus genomes across the hybrid zone. In three cases, the highest and/or outlying levels of association were observed at or very close to the annotated positions of the respective gene amplicons, demonstrating the power of our approach in confirming the reference locations of copy number variants. Notably, several other reference locations were recognized as positive outliers in the association with particular CNV genes, possibly representing the extra gene copies and/or their epistatic interaction sites.

scholarly journals High levels of copy number variation of ampliconic genes across major human Y haplogroups

2017 ◽  
Author(s):  
Danling Ye ◽  
Arslan Zaidi ◽  
Marta Tomaszkiewicz ◽  
Corey Liebowitz ◽  
Michael DeGiorgio ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Y Chromosome ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Families ◽  
Digital Pcr ◽  
Gene Copy ◽  
Copy Numbers ◽  
Number Variation ◽  
Gene Copy Numbers

AbstractDue to its highly repetitive nature, the human male-specific Y chromosome remains understudied. It is important to investigate variation on the Y chromosome to understand its evolution and contribution to phenotypic variation, including infertility. Approximately 20% of the human Y chromosome consists of ampliconic regions which include nine multi-copy gene families. These gene families are expressed exclusively in testes and usually implicated in spermatogenesis. Here, to gain a better understanding of the role of the Y chromosome in human evolution and in determining sexually dimorphic traits, we studied ampliconic gene copy number variation in 100 males representing ten major Y haplogroups world-wide. Copy number was estimated with droplet digital PCR. In contrast to low nucleotide diversity observed on the Y in previous studies, here we show that ampliconic gene copy number diversity is very high. A total of 98 copy-number-based haplotypes were observed among 100 individuals, and haplotypes were sometimes shared by males from very different haplogroups, suggesting homoplasies. The resulting haplotypes did not cluster according to major Y haplogroups. Overall, only three gene families (DATZ, RBMY, TSPY) showed significant differences in copy number among major Y haplogroups, and the haplogroup of an individual could not be predicted based on his ampliconic gene copy numbers. Finally, we found a significant correlation between copy number variation and individual’s height (for three gene families), but not between the former and facial masculinity/femininity. Our results suggest rapid evolution of ampliconic gene copy numbers on the human Y, and we discuss its causes.

scholarly journals Ensemble of Nucleic Acid Absolute Quantitation Modules for Accurate Copy Number Variation Detection and Targeted RNA Profiling

2021 ◽  
Author(s):  
Lucia Wu ◽  
Peng Dai ◽  
Michael Wang ◽  
Sherry Chen ◽  
Evan Cohen ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
High Efficiency ◽  
Sampling Error ◽  
Digital Pcr ◽  
Gene Copy ◽  
Absolute Quantitation ◽  
Molecular Barcoding ◽  
Wide Range ◽  
Number Variation

Abstract Current gold standard for absolute quantitation of a specific DNA sequence is droplet digital PCR (ddPCR), which has been applied to gene copy number variation (CNV) detection. However, the number of quantitation modules in ddPCR has been limited by fluorescence channels, which thus limits the CNV sensitivity due to sampling error following Poisson distribution. Here we develop a PCR-based molecular barcoding NGS approach, quantitative amplicon sequencing (QASeq), for accurate absolute quantitation which is compatible with high multiplexing to include over 200 quantitation modules. By attaching barcodes to individual target molecules with high efficiency, 2-plex QASeq exhibits higher and more consistent conversion yield than ddPCR in absolute molecule count quantitation. Multiplexed QASeq improves CNV sensitivity to allow confident distinguishment of 2.05 ploidy from normal 2.00 ploidy. We applied multiplexed QASeq to serial longitudinal plasma cfDNA samples from patients with metastatic ERBB2+ (HER2+) breast cancer seeking association with tumor progression. We further show an RNA QASeq panel for targeted expression profiling on a wide range of RNA samples including tumor formalin-fixed, paraffin-embedded (FFPE) RNA.

Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population

2021 ◽  
Author(s):  
Thuraya M Mutawi ◽  
Mohamed M Zedan ◽  
Raida S Yahya ◽  
Mahmoud M Zakria ◽  
Mamdouh R El-Sawi ◽  
...  
Keyword(s):  
Genetic Variability ◽  
Copy Number Variation ◽  
Copy Number ◽  
Middle Eastern ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Allelic Variants ◽  
Gene Copy Number Variation ◽  
Number Variation ◽  
Study Participants

Aim: This study investigated major allelic variants of CYP2D6, CYP3A4 and CYP3A5 in Egyptians, an Arabic population for which there is little information regarding these important pharmacogenes. Patients & methods: CYP2D6*2, *4, *5, *10, *41 and gene copy number variation, as well as CYP3A4*22 and CYP3A5*3 were determined with commercially available TaqMan assays in 145 healthy study participants. Results: The CYP2D6 alleles identified suggest that the prevalence of poor metabolizers is low as none were found among the 145 subjects investigated. The frequency for CYP3A5 nonexpressers was 74.5% and the CYP3A4*22 allele frequency was low at 2.0%. Conclusion: These preliminary findings indicate that pharmacogene variation in Egyptians is different from those of other Middle Eastern/Arabic populations and warrants further investigation.

Gene copy number variation in schizophrenia

2007 ◽  
Vol 96 (1-3) ◽  
pp. 93-99 ◽  
Author(s):  
S SUTRALA ◽  
D GOOSSENS ◽  
N WILLIAMS ◽  
L HEYRMAN ◽  
R ADOLFSSON ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Gene Copy Number Variation ◽  
Number Variation
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