Search results

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

Genetic and physical mapping around the properdin P gene

A CA repeat has been found on the human X chromosome within 16 kb of the gene encoding properdin P factor (PFC) and has been shown to be a highly informative marker. Two more polymorphic CA repeats were found in a cosmid containing DXS228. The CA repeats, and other markers from proximal Xp, were mapped genetically in CEPH families and the likely order of markers was established as Xpter-(DXS7, MAO-A, DXS228)-(PFC, DXS426)-(TIMP, OATL1)-DXS255-Xcen. This places PFC in the region Xp11.3-Xp11.23, thus refining previous in situ hybridization data. Two yeast artificial chromosomes (YACs) (440 and 390 kb) contain both PFC and DXS426, and one of them (440 kb) also contains TIMP. This confirms the genetic order TIMP-(PFC, DXS426). PFC and TIMP are located on the same 100-kb SalI PvuI fragment of the 440-kb YAC. Given the genetic orientation of TIMP and (PFC, DXS426), this YAC can now serve as a starting point for directional walking toward disease genes located in Xp11.3-Xp11.2 such as retinitis pigmentosa (RP2) and Wiskott-Aldrich syndrome. © 1991.

Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex

Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy

Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

Gene deletions in spinal muscular atrophy.

Genomic Organization and Chromosomal Localization of a Member of the MAP Kinase Phosphatase Gene Family to Human Chromosome 11p15.5 and a Pseudogene to 10q11.2

Rescue of a single yeast artificial chromosome from a cotransformation event utilizing segregation at meiosis

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

A 1.8-Mb YAC Contig in Xp11.23: Identification of CpG Islands and Physical Mapping of CA Repeats in a Region of High Gene Density

A bidirectional YAC walk from the Norrie disease (NDP) locus

A Novel Gene, DXS8237E, Lies within 20 kb Upstream of UBE1 in Xp11.23 and Has a Different X Inactivation Status

Rescue of a single yeast artificial chromosome from a cotransformation event utilizing segregation at meiosis

During the construction of yeast artificial chromosome (YAC) libraries to facilitate mapping of the human genome, two YACs may be cotransformed into the same yeast cell, making further analysis very difficult. We present a simple method to rescue the required YAC that utilizes the segregation of chromosomes at meiosis. In brief, we crossed the cotransformed yeast cell with a non-YAC-containing strain and induced the resulting diploid to sporulate and undergo meiosis. The new haploid generation included some yeast cells that contained only the desired YAC. These YACs were analyzed by conventional methods. To exclude the possibility that major rearrangement occurred during the procedure, we analyzed the YACs with restriction enzymes that cut only rarely. We conclude that this is a useful technique to rescue cotransformed YACs. © 1993.

Molecular and cellular correlates of human nerve regeneration: ADCYAP1 encoding PACAP enhances sensory neuron outgrowth

Abstract We only have a rudimentary understanding of the molecular and cellular determinants of human nerve regeneration. Here, we use carpal tunnel syndrome (CTS) as a human model system to prospectively evaluate correlates of neural regeneration and their relationship with clinical recovery after decompression surgery. At 6 months post-surgery, we noted a significant improvement of median nerve neurophysiological and somatosensory function. Serial skin biopsies revealed a partial recovery of intraepidermal innervation, whose extent correlated with symptom improvement. In myelinated afferents, nodal length increased postoperatively. Transcriptional profiling of the skin revealed 23 differentially expressed genes following decompression, with ADCYAP1 (encoding PACAP) being the most strongly upregulated and showing an association with regeneration of intraepidermal nerve fibres. Using human induced pluripotent stem cell-derived sensory neurons, we confirmed that PACAP significantly enhances axon outgrowth in vivo . Since PACAP signals through G-protein receptors, this pathway provides an interesting therapeutic target for human sensory nerve regeneration.

Recall cues interfere with retrieval from visuospatial working memory

The reunification of amyotrophic lateral sclerosis