PMC:539965 / 11610-13417 JSONTXT

{"project":"2_test","denotations":[{"id":"15608249-10729113-76718708","span":{"begin":1081,"end":1083},"obj":"10729113"},{"id":"15608249-8634705-76718708","span":{"begin":1081,"end":1083},"obj":"8634705"},{"id":"15608249-9585603-76718708","span":{"begin":1081,"end":1083},"obj":"9585603"},{"id":"15608249-9097956-76718708","span":{"begin":1081,"end":1083},"obj":"9097956"},{"id":"15608249-12032320-76718709","span":{"begin":1269,"end":1271},"obj":"12032320"},{"id":"15608249-9735382-76718710","span":{"begin":1272,"end":1274},"obj":"9735382"},{"id":"15608249-9354806-76718711","span":{"begin":1300,"end":1302},"obj":"9354806"},{"id":"15608249-1379347-76718711","span":{"begin":1300,"end":1302},"obj":"1379347"},{"id":"15608249-12837695-76718711","span":{"begin":1300,"end":1302},"obj":"12837695"}],"text":"CONCLUSIONS\nDG-CST is an annotated collection of conserved sequences related to genes involved in genetic diseases and may represent a valuable resource for investigators interested in studying the molecular mechanisms that underlie genetic diseases. The database will be updated on a regular basis to include information on newly identified human disease genes as well as on new genomic data (e.g. sequences from additional organisms). DG-CST may help in deciphering the spectrum of pathogenetic mutations that determine genetic diseases. Mutations are usually searched for in the coding regions of a gene, but may easily occur in other areas. CSTs provide a vast library of putative novel functional sites, such as non-previously described exons and/or elements possibly playing a role in regulating the level of gene expressions, which may be functionally tested as well as screened for mutations in patients, particularly in diseases where the analysis of the known functional elements of the disease gene failed so far in identifying a relevant number of causative mutations (24–27). There are a number of evidences that point to the direct involvement of regulatory control elements in the pathogenesis of human disorders, both due to chromosomal rearrangements (28,29) and to point mutations (30–32). However, the recognition of pathogenic mutations leading to genetic disorders in regulatory elements has been so far hampered by our limited knowledge of the structure and function of the elements associated to disease genes. The availability of the DG-CST database should be a valuable resource in order to fill this gap of information and to facilitate the efforts aimed at both elucidating the function of disease genes and at better understanding the pathogenetic mechanisms of genetic diseases."}