The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser.
The Caenorhabditis elegans genome contains a single dystrophin/utrophin orthologue, dys-1. Point mutations in this gene, dys-1(cx35) and dys-1(cx18), result in truncated proteins. Such mutants offer potentially valuable worm models of human Duchenne muscular dystrophy. We have used microarrays to examine genes expressed differentially between wild-type C. elegans and dys-1 mutants. We found 106 genes...
We have identified Ngef as a novel member of the family of Dbl genes. Many members of this family have been shown to function as guanine nucleotide exchange factors for the Rho-type GTPases. Ngef is predominantly expressed in brain, with the strongest signal in the caudate nucleus, a region associated with the control of movement. Ngef contains a translated trinucleotide repeat, a polyglutamic acid...
We present a novel method, based on the hybridization of allele-specific oligonucleotide probes, that allows the specific detection of chromosome 21 α-satellite sequences. Absence of informative polymorphic markers from the centromeric region of chromosome 21 has constituted one of the difficulties in studying the centromere of this chromosome. The α-satellite subfamilies from chromosomes 21 and 13...
Dystrobrevin, the mammalian orthologue of theTorpedo87-kDa postsynaptic protein, is a member of the dystrophin gene family with homology to the cysteine-rich carboxy-terminal domain of dystrophin.Torpedodystrobrevin copurifies with the acetylcholine receptors and is thought to form a complex with dystrophin and syntrophin. This complex is also found at the sarcolemma in vertebrates and defines the...
A novel X-linked gene, DXS8237E, was isolated from human fetal brain cDNA, and its 3′ end was mapped to within 20 kb upstream of UBE1 in Xp11.23. A 1.3-kb cDNA for DXS8237E detects homologous sequences in other mammals and a 3-kb mRNA that is widely expressed in human cell lines and mouse tissues. Sequence analysis indicated that the 1.3-kb cDNA contains the 3′ end of the DXS8237E gene, but the sequence...
The region of Xp between DXS7 and the centromere contains the gene for Norrie disease in addition to the genes for several other ophthalmic disorders. A 650-kb YAC containing the loci MAOA, MAOB, and NDP has been used as the starting point for a bidirectional chromosomal walk. A contig of 16 YACs covering between 2 and 3 Mb has been developed in which the following markers/genes are located (in physical...
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.