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Nanomedicine Summit 2008

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Science 9 February 2001:
Vol. 291. no. 5507, p. 1197
DOI: 10.1126/science.291.5507.1197
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News Focus

A Genome Glossary

A
Allele    Alternative versions of a gene or other segment of a chromosome
 Alternative splicing    Different ways of combining a gene's exons to make variants of the complete protein
 Amplification    Repeated copying of a
Annotate    Identify the locations and coding regions of genes in a genome and determine what they do
 Assembly    Putting sequenced fragments of DNA into their correct chromosomal positions
B
BAC    Bacterial artificial chromosome: bacterial DNA spliced with a medium-sized fragment of a genome (100 to 300 kb) to be amplified in bacteria and sequenced
 Bioinformatics    The study of genetic and other biological information using computer and statistical techniques
 BLAST    A computer program that identifies homologous genes in different organisms, such as human, fruit fly, or nematode
C
Centimorgan (cM)    A unit of genetic distance, determined by how frequently two genes on the same chromosome are inherited together
 Centromere    The difficult-to-sequence central region of a chromosome
 Coding DNA    Sequences transcribed into protein structures; also called exons
 Contig    Contiguous sequence of DNA created by assembling overlapping sequenced fragments of a chromosome (whether natural or artificial, as in BACs)
 Cosmid    DNA from a bacterial virus spliced with a small fragment of a genome (45 kb or less) to be amplified and sequenced
D
Directed sequencing    Successively sequencing DNA from adjacent stretches of chromosome
 Draft sequence    Sequence with lower accuracy than a finished sequence; some segments are missing or in the wrong order or orientation
E
EST    Expressed sequence tag: a unique stretch of DNA within a coding region of a gene; useful for identifying full-length genes and as a landmark for mapping
 Exon    Region of a gene's DNA that encodes a portion of its protein; exons are interspersed with noncoding introns
F
Finished sequence    Sequence in which bases are identified to an accuracy of no more than 1 error in 10,000 and are placed in the right order and orientation along a chromosome with almost no gaps
 FISH    Fluorescence in situ hybridization: a method for pinpointing the location of a piece of DNA sequence on a chromosome
 Functional genomics    The study of genomes to determine the biological function of all the genes and their products
G
Gene expression    Conversion of the information encoded in a gene first to messenger RNA and then to a protein
 Gene prediction    Predictions of possible genes made by a computer program based on how well a stretch of DNA sequence matches known gene sequences
 Genetic linkage map    A map of the relative positions of genes and other regions on a chromosome, determined by how often loci are inherited together
 Genome    The entire chromosomal genetic material of an organism
 Genomics    The comprehensive study of whole sets of genes and their interactions rather than single genes or proteins
H
Homologous genes    Genes with similar structures and functions
I
Intron    Region of a gene's DNA that is not translated into a protein
J
Junk DNA    Stretches of DNA that do not code for genes; most of the genome consists of so-called junk DNA
K
Kilobase (kb)    Unit of DNA length equal to 1000 bases
L
Locus    Chromosomal location of a gene or other piece of DNA
M
Megabase (Mb)    Unit of DNA length equal to 1 million bases
P
PCR    Polymerase chain reaction: a technique for amplifying a piece of DNA quickly and cheaply
 Physical map    A map of the locations of identifiable markers spaced along the chromosomes; a physical map may also be a set of overlapping clones
 Plasmid    Loop of bacterial DNA that replicates independently of the chromosomes; artificial plasmids can be inserted into bacteria to amplify DNA for sequencing
 Polymorphism    A variation in DNA sequence within a population
 Proteome    The full complement of proteins produced by a particular genome
 Proteomics    The study of the full set of proteins encoded by a genome
 Pseudogene    A sequence of DNA similar to a gene but nonfunctional; probably the remnant of a once-functional gene that accumulated mutations
R
Regulatory region    A segment of DNA that controls whether a gene will be expressed and to what degree
 Repetitive DNA    Sequences of varying lengths that occur in multiple copies in the genome; it represents much of the genome
 Restriction enzyme    An enzyme that cuts DNA at specific sequences of base pairs
 RFLP    Restriction fragment length polymorphism: genetic variation in the length of DNA fragments produced by restriction enzymes; useful as markers on maps
S
Scaffold    A series of contigs that are in the right order but are not necessarily connected in one continuous stretch of sequence
 Shotgun sequencing    Breaking DNA into many small pieces, sequencing the pieces, and assembling the fragments
 SNP    Single-nucleotide polymorphism: common, single-base-pair variations in DNA
 Structural genomics    The effort to determine the 3D structures of large numbers of proteins using both experimental techniques and computer simulation
 STS    Sequence tagged site: a unique stretch of DNA whose location is known; serves as a landmark for mapping and assembly
T
Telomere    The free end of a chromosome
 Transcription factor    A protein that binds to regulatory regions and controls gene expression
 Transcriptome    The full complement of activated genes, or mRNAs or transcripts, in a particular tissue at a particular time
Y
YAC    Yeast artificial chromosome: yeast DNA spliced with a large fragment of a genome (up to 1000 kb) to be amplified in yeast cells and sequenced


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Thinking Critically about Race and Genetics.
R. M. Brewer (2006)
J. Law Med. Ethics 34, 513-519
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Science. ISSN 0036-8075 (print), 1095-9203 (online)