Related Experiment Video
Updated: Sep 19, 2025
08:07
Differentiation of the SH-SY5Y Human Neuroblastoma Cell Line
Published on: February 17, 2016
73.8K
Evolution is in the details: Regulatory differences in modern human and Neanderthal
Harlan R Barker1,2, Seppo Parkkila1,2, Martti E E Tolvanen3
1Faculty of Medicine and Health Technology, Tampere University, Tampere 33520, Finland.
Computational and Structural Biotechnology Journal
|June 16, 2025
Summary
Differences in transcription factor binding between humans and Neanderthals impact genes related to brain development and neurological disorders like autism. These findings highlight gene regulation
Area of Science:
- Evolutionary genomics
- Neuroscience
- Gene regulation
Background:
- Transcription factors (TFs) regulate gene expression through binding to specific DNA sites.
- Genomic differences exist between modern humans and Neanderthals, potentially affecting gene regulation.
- Understanding these differences is crucial for insights into human evolution and neurological disorders.
Purpose of the Study:
- To investigate genomic variations in promoter regions between modern humans and Neanderthals.
- To identify transcription factors and target genes affected by these variations.
- To explore the implications for human cognitive evolution and neuropsychiatric disorders.
Main Methods:
- Comparative analysis of human and Neanderthal promoter sequences.
- Assessment of TF binding affinities to identified genomic variations.
- Analysis of single-cell and single-nucleus RNA sequencing data to examine gene expression patterns.
Main Results:
- Significant differences in binding affinities of 110 TFs to 75 target genes were detected.
- Affected TFs and genes are enriched in functions related to vision, motor neurons, brain development, and autism.
- Several TFs and target genes show differential expression in human brain tissue associated with autism and schizophrenia.
Conclusions:
- Genomic variations between humans and Neanderthals impact TF binding, influencing genes critical for brain function.
- These regulatory changes are linked to the evolution of human cognitive abilities.
- The findings provide insights into the genetic underpinnings of neuropsychiatric disorders like autism and schizophrenia.
Related Concept Videos
02:05Gene Evolution - Fast or Slow?
7.5K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.5K
02:31Synteny and Evolution
3.4K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.4K
02:54Evolutionary Relationships through Genome Comparisons
6.2K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.2K
02:02Cis-regulatory Sequences
10.2K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
10.2K
02:55The Evidence for Evolution
44.2K
Genetic variations accumulating within populations over generations give rise to biological evolution. Evolutionary changes can result in the formation of novel varieties and entire new species. These changes are responsible for the diverse forms of life inhabiting the planet. The evidence for evolution suggests that all living organisms descended from common ancestors.
44.2K
01:38Limits to Natural Selection
32.3K
Organisms that are well-adapted to their environment are more likely to survive and reproduce. However, natural selection does not lead to perfectly adapted organisms. Several factors constrain natural selection.
32.3K