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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Histone Variants at the Centromere

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

Genome Copying Errors

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Published on: August 17, 2022

Copy number variants in Ebstein anomaly.

Andreas Giannakou¹, Robert J Sicko², Wei Zhang¹

¹Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

|December 8, 2017

Summary

This summary is machine-generated.

Genetic factors contribute to Ebstein anomaly (EA), a rare heart defect. This study identified copy number variants (CNVs) linked to genes involved in heart development, suggesting abnormal cardiomyocyte differentiation plays a role.

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Area of Science:

Cardiology
Genetics
Developmental Biology

Background:

Ebstein anomaly (EA) is a rare congenital heart defect with unclear etiology.
Familial recurrence and associations with genetic syndromes suggest a genetic basis for EA.
Copy number variants (CNVs) are implicated in EA pathogenesis.

Purpose of the Study:

To investigate recurrent and novel CNVs in a cohort of EA cases.
To identify genetic factors contributing to the development of Ebstein anomaly.

Main Methods:

A population-based study genotyped 60 EA cases using the Illumina HumanOmni2.5-8 array.
Identified and validated 11 candidate CNVs in 28 (46%) of the EA cases.
Analyzed CNVs for overlap with genes critical for myocardial development.

Main Results:

Five CNVs were identified near genes involved in early myocardial development (e.g., NODAL, PDLIM5).
Replicated previous findings associating EA with CNVs at 1p34.1 and AKAP12.
Discovered four CNVs near transcription factors crucial for cardiac development (e.g., HES3, TRIM71).

Conclusions:

This research supports a strong genetic contribution to Ebstein anomaly.
Defects in cardiomyocyte and myocardium differentiation are implicated in EA.
Further research is needed to elucidate the role of genetic factors in abnormal cardiomyocyte differentiation in EA.