DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta =...

We analyze the effect of the host crystal symmetry on the optical spectra of the 6P(1/2)-6S(1/2) and 6P(3/2)-6S(1/2) transitions of atomic Cs in solid (4)He matrices. In particular, we address the deformation of the bubble structures formed by Cs in such quantum crystals. We show that the anisotropy of the stiffness tensor leads to static quadrupolar bubble shape deformations in hexagonally clo...

The interaction of U1 with the 5Ј splice site has long been known to be required for spliceosome assembly. In fact, according to the sequential assembly model, U1 A spliceosome is a molecular machine that catalyzes is the first spliceosomal component that interacts with the precise excision of an intron from a pre–messenger the substrate RNA and is responsible both for defining RNA (pre-mRNA). ...

U4 and U6 small nuclear RNAs are associated by an extensive base-pairing interaction that must be disrupted and reformed with each round of splicing. U4 mutations within the U4/U6 interaction domain destabilize the complex in vitro and cause a cold-sensitive phenotype in vivo. Restabilization of the U4/U6 helix by dominant (gain-of-function), compensatory mutations in U6 results in wild-type gr...

Recently, it has been reported that there is a differential subcellular distribution of components of the minor U12-dependent and major U2-dependent spliceosome, and further that the minor spliceosome functions in the cytoplasm. To study the subcellular localization of the snRNA components of both the major and minor spliceosomes, we performed in situ hybridizations with mouse tissues and human...

The relaxation of electronically excited atomic manganese isolated in solid rare gas matrices is observed from recorded emission spectra, to be strongly site specific. z 6P state excitation of Mn atoms isolated in the red absorption site in Ar and Kr produces narrow a 4D and a 6D state emissions while blue-site excitation produces z 6P state fluorescence and broadened a 4D and a 6D emissions. M...

Human proteins 15.5K and hPrp31 are components of the major spliceosomal U4 snRNP and of the minor spliceosomal U4atac snRNP. The two proteins bind to related 5'-stem loops (5'SLs) of the U4 and U4atac snRNAs in a strictly sequential fashion. The primary binding 15.5K protein binds at K-turns that exhibit identical sequences in the two snRNAs. However, RNA sequences contacted by the secondary b...

The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found...