How to Use LocusLink 1) What is LocusLink? 2) How does LocusLink relate to PubMed, RefSeq, and other NCBI databases? 3) How do I use LocusLink? 4) What do the search results mean? 5) Quick Quiz 1) What is LocusLink? LocusLink (http://www.ncbi.nlm.nih.gov/LocusLink) is a National Center for Biotechnology Information (NCBI) online resource. It is principally intended for use by graduate students and professional researchers in the biomedical sciences. It is designed to bring together related information on genetic loci and gene products from several sources. LocusLink provides a central point of access for basic biomedical information and molecular data for genes, transcripts, and proteins from model organisms, currently including human, rat, mouse, fruit fly, and zebrafish. 2) How does LocusLink relate to PubMed, RefSeq, and other NCBI databases? NCBI has a large and growing number of search tools for biologists to obtain information. A few of these include: PubMed: a searchable biomedical literature citation index. For a given genetic locus, LocusLink leads directly to a short list of PubMed citations for that gene. (This list usually includes reports pertaining to central genetic or molecular biological discoveries, and to reports on disease-causing alleles, for the gene in question.) RefSeq: Another new NCBI database, RefSeq (Reference Sequence) entries are intended to serve as "authority files" for genetic sequence information. For a given genetic open reading frame, RefSeq provides a curated file on the gene sequence and its transcriptional and translational processing (where available). An professional review process helps to ensure the biological accuracy of these authority files. RefSeq files are accessible directly from the LocusLink entry for the genetic locus in question. OMIM (Online Mendelian Inheritance in Man): a database of human genes and genetic diseases, including knowledge of their molecular and physiological roles and causes. The writeups for genetic loci and their roles in physiology are often extensive and are frequently updated. OMIM files are accessible directly from the LocusLink entry for the genetic locus in question. GenBank, Protein Database, Homologene, UniGene, genetic variations database (single nucleotide polymorphisms): links to gene-specific information from each of these databases are directly available from the LocusLink entry for the genetic locus in question. 3) How do I use LocusLink? Go to the LocusLink home page: http://www.ncbi.nlm.nih.gov/LocusLink. Although an alphabetical list of entries is available, LocusLink can be most easily searched using the query box at the top of the page. Users can enter a wide variety of terms, for example: gene name or gene symbol (e.g., SDHA), protein name (succinate dehydrogenase flavoprotein), protein symbol (SDH), EC (Enzyme Commission) number (1.3.5.1), and disease states (Leigh syndrome). Type in your search query into the "Query:" box, then press "go". What data is LocusLink searching? LocusLink searches the full text of the files within its database for the individual terms queried. Can I do truncation searches? Yes. You can use the asterisk as a truncation symbol (e.g., search term: succin*) to obtain, in this example, information on a variety of genetic loci involved in metabolism of succinate or succinyl-derivatives. Can I do Boolean (AND, OR, NOT) searches? If multiple terms are entered (e.g., succinate dehydrogenase) the search engine automatically searched for files containing both words (succinate and dehydrogenase) in the file. Searches can also be constructed using the terms AND, OR (to find files containing both or either search terms), and NOT (to find files containing the first but not the second term). Presently, however, proximity searches (succinate within “x” words of dehydrogenase), searches on phrases ("succinate dehydrogenase" where the two words must be immediately adjacent), and synonyms are not fully supported. 4) What do the search results mean? On the results page, first note that the number of entries returned is given. If you get no results, refer to the "help" section, linked in the left-hand bar on the page. If you do get hits, you can explore the NCBI site databases in a number of ways, depending on the data available for a given locus. These will be listed in a table with the headings "LocusID", "Org", "Symbol", "Description", "Position", and "Links." Each of these is described below: Click on the blue "LocusID" number to get an overview description of the gene locus and its function,. (This is the unique database number for the entry.) The "Org" column lists abbreviations for the organism that the gene was isolated from (Hs = Homo sapiens, Mm = Mus musculus, Dm = Drosophila melanogaster, etc.) The "Symbol" column lists the common gene abbreviation for the locus. "Description" is a brief explanation of the function of the locus. The "Position" column gives the chromosomal map location of the genetic locus. Clicking the blue entry links to a visual chromosomal map with the gene marked on it. The rainbow-colored "Links" column gives links to several other NCBI databases: “P” PubMed “O” Online Mendelian Inheritance in Man (OMIM) “R” RefSeq database “G” GenBank database “P” Protein database “H” Homologene database “U” Unigene database “V” Variation data: single nucelotide polymorphism (SNP) database If you can't find the genetic information you're looking for using LocusLink (or don’t understand why you found what you did!), please feel free to contact University of Illinois Library graduate assistant Kevin Messner (krmessne@uiuc.edu), or visit the reference desk of your biomedical library. 5) Quick Quiz: a) How can I find a picture of the human chromosome map location of the SOD1 gene via LocusLink (http://www.ncbi.nlm.nih.gov/LocusLink)? Answer: Search LocusLink for SOD1, then click on the "Position" link for the Homo sapiens (Hs) entry in the results table to bring up a chromosomal map with the gene marked. b) Where can I find a basic description of function of the SOD1 gene and protein, and perhaps a description of genetic diseases it is related to? Answer: Use LocusLink, then on the results page click on the OMIM button (orange button with an "O") for the SOD1 entry. c) Using LocusLink (http://www.ncbi.nlm.nih.gov/LocusLink), can I find any known single nucleotide polymorphisms for the SOD1 gene? How about GenBank entries for the gene? Answer: On the results page for SOD1, click on the V ("variations") to reach the SNP database entries for the SOD1 gene. Click on the G to access GenBank records. d) When I search for SOD1, I also get a hit on a "CCS" gene. Why do I get this? Answer: As the description states, CCS stands for copper chaperone for superoxide dismutase. The "SOD1" appears in the record for this gene, so it comes up as a hit as well. (Look at this not as a "bad" hit, but realize that such a result can come in handy when you're learning about a gene: if you didn't know that there was a copper chaperone for SOD1, now you do!)