Related Experiment Video
Updated: Feb 22, 2026
08:57
Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
Published on: August 14, 2018
16.6K
The evolution of a Web resource: The Galactosemia Proteins Database 2.0
Antonio d'Acierno1, Bernardina Scafuri1, Angelo Facchiano1
1CNR-ISA, National Research Council, Institute of Food Science, Avellino, Italy.
Human Mutation
|September 30, 2017
Summary
Galactosemia Proteins Database 2.0 offers updated information on genetic variations affecting Leloir pathway enzymes (GALT, GALE, GALK1) crucial for galactosemia research. This resource aids the global scientific community studying this genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Bioinformatics
Background:
- Galactosemia is a genetic disorder affecting galactose metabolism.
- Enzyme deficiencies in the Leloir pathway (GALT, GALE, GALK1) cause galactosemia.
- Understanding protein variations is key to disease mechanisms.
Purpose of the Study:
- To present Galactosemia Proteins Database 2.0, an enhanced web resource.
- To consolidate information on structural and functional effects of enzyme variations.
- To serve as a model for similar disease-protein variation databases.
Main Methods:
- Data collection on known variations in GALT, GALE, and GALK1.
- Integration of new structural data and analysis tools.
- Development of improved interfaces and filters for user access.
Main Results:
- The database provides comprehensive information on galactosemia-associated protein variations.
- New data includes updated structures and advanced analytical capabilities.
- Enhanced features improve data quality and accessibility for researchers.
Conclusions:
- Galactosemia Proteins Database 2.0 is a valuable resource for the global galactosemia research community.
- The platform facilitates deeper understanding of enzyme variations and their impact.
- It sets a precedent for developing similar databases for other genetic diseases.
More Related Videos
Related Concept Videos
01:57Gene Families
10.1K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.1K
02:47Protein Families
17.3K
Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key...
17.3K
02:47Protein Families
4.5K
4.5K
01:27Glucose Transporters
27.7K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
27.7K
02:37Gene Duplication and Divergence
8.1K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
8.1K
02:54Evolutionary Relationships through Genome Comparisons
7.1K
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...
7.1K