A human-specific de novo protein-coding gene associated with human brain functions
Chuan-Yun Li1, Yong Zhang, Zhanbo Wang
1Center for Bioinformatics, National Laboratory of Protein Engineering and Plant Genetic Engineering, College of Life Sciences, Peking University, Beijing, China.
Plos Computational Biology
|April 9, 2010
Summary
Researchers discovered FLJ33706, a human-specific gene, which is expressed in the brain and potentially linked to Alzheimer's disease. This finding highlights the role of new genes in human brain evolution and function.
Area of Science:
- Genetics
- Neuroscience
- Evolutionary Biology
Background:
- Human-specific genes may influence unique brain functions.
- Genome-Wide Association Studies (GWAS) identify genetic factors for diseases like nicotine addiction.
Purpose of the Study:
- To identify and characterize human-specific de novo genes potentially involved in human brain functions.
- To investigate the evolutionary origin and functional significance of novel genes.
Main Methods:
- Computational screening of genetic data from GWAS and linkage analyses.
- Cross-species comparative genomics to trace gene evolution.
- Experimental validation of gene expression (mRNA and protein) in human tissues, including brain.
- Immunohistochemistry to determine protein localization in neurons.
Main Results:
- Identified FLJ33706 (C20orf203) as a human-specific, de novo protein-coding gene.
- Elucidated evolutionary path involving repeat element insertion (Alu) and substitutions leading to its open reading frame.
- Confirmed abundant FLJ33706 mRNA and protein expression in the human brain (cortex, cerebellum, midbrain).
- Detected elevated FLJ33706 expression in Alzheimer's disease brain samples.
Conclusions:
- FLJ33706 is a novel human-specific gene with protein-coding potential and differential expression in the brain.
- The gene's evolutionary origin and neuronal localization suggest a role in human brain function.
- Elevated expression in Alzheimer's disease indicates its potential involvement in neurodegenerative pathogenesis.
Related Concept Videos
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:30Organization of the Brain
The brain is an integral component of the nervous system and serves as the center for processing sensory inputs, making decisions, and directing bodily actions. This complex organ is organized into three primary sections: the hindbrain, midbrain, and forebrain, each responsible for a range of vital functions.
Hindbrain
The hindbrain, located at the base of the brain, plays a vital role in regulating automatic processes that sustain life. It includes the medulla oblongata, which is essential for...
Hindbrain
The hindbrain, located at the base of the brain, plays a vital role in regulating automatic processes that sustain life. It includes the medulla oblongata, which is essential for...
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
02:39lncRNA - Long Non-coding RNAs
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...