Mar 24, 2016

Preservation of methylated CpG dinucleotides in human CpG islands

Biology Direct
Alexander Y PanchinYulia A Medvedeva


CpG dinucleotides are extensively underrepresented in mammalian genomes. It is widely accepted that genome-wide CpG depletion is predominantly caused by an elevated CpG > TpG mutation rate due to frequent cytosine methylation in the CpG context. Meanwhile the CpG content in genomic regions called CpG islands (CGIs) is noticeably higher. This observation is usually explained by lower CpG > TpG substitution rates within CGIs due to reduced cytosine methylation levels. By combining genome-wide data on substitutions and methylation levels in several human cell types we have shown that cytosine methylation in human sperm cells was strongly and consistently associated with increased CpG > TpG substitution rates. In contrast, this correlation was not observed for embryonic stem cells or fibroblasts. Surprisingly, the decreased sperm CpG methylation level was insufficient to explain the reduced CpG > TpG substitution rates in CGIs. While cytosine methylation in human sperm cells is strongly associated with increased CpG > TpG substitution rates, substitution rates are significantly reduced within CGIs even after sperm CpG methylation levels and local GC content are controlled for. Our findings are consistent with strong negative select...Continue Reading

  • References54
  • Citations2


Mentioned in this Paper

Genome-Wide Association Study
Specimen Type - Fibroblasts
Protein Methylation
Malignant Neoplasm of Stomach
Cytosine Methylation
Sperm Cell

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Coronavirus Protein Structures

Deciphering and comparing the proteins of different coronaviruses forms a basis for understanding SARS-CoV-2 evolution and virus-receptor interactions. This feed follows studies analyzing the structures of coronavirus proteins, thereby revealing potential drug target sites.

DDX3X Syndrome

DDX3X syndrome is caused by a spontaneous mutation at conception that primarily affects girls due to its location on the X-chromosome. DDX3X syndrome has been linked to intellectual disabilities, seizures, autism, low muscle tone, brain abnormalities, and slower physical developments. Here is the latest research.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

Fusion Oncoproteins in Childhood Cancers

This feed explores the function of fusion oncoproteins in specific childhood cancers, including those from racial/ethnic minority and underserved groups, and to provide preclinical assessment of potential therapeutics and how fusion oncoproteins influence gene expression to perturb normal cellular programs to block lineage differentiation and development

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Regulation of Vocal-Motor Plasticity

Dopaminergic projections to the basal ganglia and nucleus accumbens shape the learning and plasticity of motivated behaviors across species including the regulation of vocal-motor plasticity and performance in songbirds. Discover the latest research on the regulation of vocal-motor plasticity here.

Mitotic-exit networks with cytokinesis

Cytokinesis is the highly regulated process that physically separates daughter and mother cells in late mitosis. The mitotic-exit network (MEN), the signalling pathway that drives mitotic exit, directly regulates cytokinesis. Discover the latest research on mitotic-exit networks with cytokinesis here.

DNA Replication Origin

DNA replication is initiated as specific gene sequences, called origins, that function to start DNA replication. Pre-replication complexes are assembled at these origins during the G1 phase of the cell cycle. These sequences allow for targeted activation or deactivation of replication. Discover the latest research on DNA replication origins here.