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The aquaporin-4 (AQP4) gene encodes proteins of ∼31 and 34 kDa with distinct N-terminal sequences. Both protein isoforms are expressed in brain, whereas mainly the smaller isoform is found in other tissues. We isolated the promoter sequences upstream of exon 0 (encoding the longer isoform) and exon 1 (encoding the shorter isoform). The exon 0 promoter region contained multiple TATA and CCAAT boxes...
Minisatellites provide the most informative system for analyzing processes of tandem repeat turnover in humans. However, little is known about minisatellites and the mechanisms by which they mutate in other species. To this end, we have isolated and characterized 76 endogenous mouse VNTRs. Fifty-one loci have been localized on mouse chromosomes and, unlike in humans, show no clustering in proterminal...
We have determined the chromosomal localization of the gene for the regulatory subunit RIIα of cAMP-dependent protein kinase (locus PRKAR2A) to human chromosome 3 using polymerase chain reaction (PCR) and Southern blot analysis of two different somatic cell hybrid mapping panels. Furthermore, PCR analysis of a chromosome 3 mapping panel revealed the presence of a human RIIα-specific amplification...
Hepatocellular carcinoma (HCC) is one of the major causes of human cancer deaths worldwide. To identify alterations of the genetic program associated with human HCC, we designed a new protocol based on the high-density replica method to analyze protein kinase gene expression in normal liver, HCC, and HCC-derived cell lines. RNA was prepared for reverse transcription and cDNA was used for PCR amplification...
An allelic association between the transforming growth factor α gene (TGFA) situated in the chromosome 2p13 region and nonsyndromic cleft lip with or without cleft palate, also named orofacial cleft (OFC), was found in several population studies. However, no linkage between gene and malformation has shown up until now, probably due to the presence of genetic heterogeneity and the small sample size...
The human lymphoid cell activation antigenCD39is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue ofCD39L1has been shown to have E-type ecto-ATPase activity, by hydrolyzing extracellular ATP. We have characterized...
The glycine receptor of the human CNS comprises ligand-binding α1 and structural β subunits encoded by theGLRA1andGLRBgenes, respectively. Screening of a human hippocampal cDNA library resulted in the identification of the novel subunit transcript β B , differing in the 5′-UTR. Analysis of the genomic organization ofGLRBshowed that the coding region is distributed over nine exons, highly homologous...
Many transcription factors involved in the determination and maintenance of cell fates share DNA-binding motifs to form gene families. The most recently discovered evolutionarily conserved DNA-binding domain of 100 amino acids, termed the forkhead domain, emerged from a sequence comparison of the rat transcription factor HNF-3α and the homeotic genefork headofDrosophila.Here we describe the isolation...
A rat PAC library was constructed in the vector pPAC4 from genomic DNA isolated from female Brown Norway rats. This library consists of 215,409 clones arrayed in 614 384-well microtiter plates. An average insert size of 143 kb was estimated from 217 randomly isolated clones, thus representing approximately 10-fold genome coverage. This coverage provides a very high probability that the library contains...
High-resolution G-banding analysis has demonstrated remarkable morphological conservation of the chromosomes of the Hominidae family members (humans, chimpanzees, gorillas, and orangutans), with the most notable differences between the genomes appearing as changes in heterochromatin distribution and pericentric inversions. Pericentric inversions may have been important for the establishment of reproductive...
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