By Wolfsberg Tyra G., Wetterstrand Kris A., Guyer Mark S., Collins Francis S., Baxevanis Andreas D.
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Additional resources for A user's guide to the human genome
The gene of interest here is the one called PTPN1; click on the hyperlinked PTPN1 (arrow, Fig. 1) to view the genomic context of this gene (Fig. 2). The text box at the top of Fig. 2 gives the absolute base pair position of this gene (chromosome 20, positions 48929540–49003636) and indicates that the gene spans 74 kb. 13. Finally, the track marked Known Genes shows that the gene is on the forward strand, as the arrows on that track are pointing to the right. The exons within this gene are indicated by the vertical lines in the Known Genes track.
Is it possible to obtain the sequence of any putative promoter regions? edu. For purposes of this example, consider the gene encoding pendrin (PDS), a protein associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goiter). From the UCSC home page, choose Human from the pulldown Organism list, and click on Browser. The user is now at the Human Genome Browser Gateway. The search in this case is simple: select Dec. 2001 from the assembly pull-down menu, type pendrin into the position box, and then click Submit.
Com/naturegenetics ture, type ‘SRY’ in the box and hit Go. Four three-dimensional structures are returned, one of which is 1HRY, the structure of the human SRY–DNA complex solved by NMR. Clicking on the 1HRY hyperlink takes the user to the Structure Summary page for 1HRY. The summary links to more detailed information about chain A, the protein component of the structure, chain B, the nucleotide component of the structure, and the conserved domain (CD) in the protein, obtained through a CDD search.