Molecular Basis of Gene Expression - Transcription and Translation

Vocabulary terms and definitions related to molecular biology databases, genomic tools, and types of genetic mutations as discussed in the Lab 7 seminar.

National Center for Biotechnology Information (NCBI)

Established on November 4, 1988, as part of the NLM of the NIH to develop information technologies for understanding molecular and genetic processes.

NUCLEOTIDE database

A collection of nucleotide sequences from sources including GenBank, RefSeq, and TPA that provides the basis for genomic, gene, and transcript research.

Primer-BLAST

An online tool used to design primers for a specific nucleotide sequence to amplify a specific stretch of DNA / RNA.

Bookshelf

An NCBI collection of searchable biomedical books, textbooks, genetic resources like GeneReviews, and help guides.

ClinVar

A resource providing a public, tracked record of reported relationships between human variation and observed health status with supporting evidence.

Database of Genomic Structural Variation (dbVar)

A database developed to archive large-scale genomic variation, such as large insertions, deletions, translocations, and inversions.

Database of Short Genetic Variations (dbSNP)

Includes single nucleotide variations, microsatellites, and small-scale insertions and deletions, containing population-specific frequency and genotype data.

MedGen

A portal to medical genetics information that organizes term lists into concept groupings and hierarchies.

Online Mendelian Inheritance in Man (OMIM)

A database of human genes and genetic disorders now primarily hosted at omim.org.

PubMed

A database of citations and abstracts for biomedical literature from MEDLINE and additional life science journals.

RefSeqGene

A collection of human gene-specific reference genomic sequences used as a stable foundation for reporting mutations and defining coordinates.

Amino Acid Explorer

A tool for exploring amino acid characteristics, comparing structural/chemical properties, and predicting protein sequence changes caused by mutations.

Basic Local Alignment Search Tool (BLAST)

A tool that performs searches for similar sequences within selected eukaryotic and prokaryotic genomes.

Sequence Viewer

A configurable graphical display tool for nucleotide or protein sequences and their annotated features.

Orphanet

A unique resource established in 1997 that gathers knowledge on rare diseases to improve diagnosis, care, and treatment.

ORPHAcode

A rare disease nomenclature maintained by Orphanet, essential for visibility in health and research information systems.

Duchenne muscular dystrophy

A condition studied for mutation effects at the molecular, biochemical, and clinical levels, often involving specific DNA mutations.

Transition

A type of gene mutation involving the substitution of a purine for a purine or a pyrimidine for a pyrimidine.

Transversion

A type of gene mutation involving the substitution of a purine for a pyrimidine or vice versa.

Missense mutation

A point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.

Nonsense mutation

A mutation in which a sense codon that corresponds to one of the twenty amino acids is changed to a chain-terminating (stop) codon.

Silent mutation

A mutation that does not result in a change to the amino acid sequence of a protein.