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Subtelomeric regions of human chromosomes are the sites of increased meiotic recombination and have a male-to-female recombination ratio that is higher than elsewhere in the genome. We isolated two novel, polymorphic CA repeat markers from the distal part of the immunoglobulin heavy chain gene cluster, approximately 90 and 200 kb from the telomere of chromosome 14q. The 14q telomere was unambiguously...
In this paper, a number of existing and novel techniques are considered for ordering cloned extracts from the genome of an organism based on fingerprinting data. A metric is defined for comparing the quality of the clone order for each technique. Simulated annealing is used in combination with several different objective functions. Empirical results with many simulated data sets for which the correct...
We describe the isolation and characterization of the cDNA for FKHL13, the human homologue of the mouse hepatocyte nuclear factor 3/fork headhomologue 4 (HFH-4) gene, a member of the HNF-3/fork head(also called winged helix) gene family. Members of this gene family contain a conserved DNA binding region of approx. 110 amino acids and are thought to play an important role in cell-specific differentiation...
Prostaglandin EP 3 receptor subtype is a seven-membrane-spanning protein with multiple C-terminal tails generated by alternative mRNA splicing. We report here the structural organization of the human EP 3 gene (PTGER3). The human EP 3 gene spanned more than 80 kb and was composed of 10 exons separated by nine introns. Exon 1 and the 5′ 180-bp portion of exon 2 (exon 2a) encoded...
PRIMO is a computer program that designs walking primers for large-scale DNA sequencing projects. Oligonucleotide primers are predicted automatically, using quality information associated with each base call, eliminating the need for manually viewing the sequence traces or inspecting contig assemblies to determine appropriate locations for primer design. This allows PRIMO to run in batch mode on an...
We have prepared a library of mouse whole CpG islands using a methyl-CpG binding domain column. The distribution of CpG islands in the mouse genome was determined by FISH, using the library as a probe. Unlike in other vertebrate genomes that have been examined (human and chicken), extreme clustering of CpG islands was not seen in the mouse genome. No individual murine chromosome stood out as being...
The mitochondrial intermediate peptidase ofSaccharomyces cerevisiae(YMIP) is a component of the yeast mitochondrial protein import machinery critically involved in the biogenesis of the oxidative phosphorylation (OXPHOS) system. This leader peptidase removes specific octapeptides from the amino terminus of nuclear-encoded OXPHOS subunits and components of the mitochondrial genetic apparatus. To address...
The TI1/UPK1b gene codes for a protein of the “tetraspan” family and is expressed as a differentiation product of the mammalian urothelium. A partial genomic clone of the human homologue of the TI1/UPK1b gene was isolated and used as probe to localize the human gene to chromosome 3q13.3–q21 byin situhybridization. Using the same probe, aTaqI restriction fragment length polymorphism, with 29% heterozygosity,...
We have cloned and characterized a cDNA,Npap60,encoding a rat nuclear pore-associated protein. The 3-kb cDNA was obtained by antibody screening of a rat testis expression library. The predicted NPAP60 contains 381 amino acids with a composition of 25.6% charged residues and is highly hydrophilic. TheNpap60gene appears to be conserved in mouse, rat, and human. Immunofluorescence studies with anti-NPAP60...
The G protein-gated potassium channel I KACh constitutes part of a signaling pathway that mediates the negative chronotropic and inotropic effects of acetylcholine on cardiac physiology. Similar or identical ion channels regulate the excitability of many neurons in response to neurotransmitters. I KACh is composed of two homologous subunits, GIRK1 and GIRK4. Here we describe a partial...
Bardet–Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS families, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on chromosomes 2, 3, 11, 15, 16, and 17...
Polymorphic microsatellite markers are widely used in gene discovery and mapping, human identification, agricultural genetics, and diagnosis of triplet-repeat expansion disorders. Reliable genotyping of these markers requires polymerase chain reaction (PCR) amplification and very-high-resolution electrophoresis. Capillary array electrophoresis offers extremely fast, high-resolution separation of DNA...
The twoNabgenes, coding for transcriptional corepressors of NGFI-A (Egr-1, Krox24, zif268) and Krox20, have been localized to two regions of the genome, each of which contains at least two members of theStatgene family. The association of the twoNabgenes with theStatclusters on mouse chromosomes 1 and 10 (human chromosomes 2 and 12) suggests that aNabgene was involved in at least one of the duplication...
β 2 -Glycoprotein I, a serum protein within vitroanticoagulant properties, plays a vital role in the binding of “anticardiolipin” antibodies purified from patients with autoimmune disease in a cardiolipin ELISA. The gene (ApoH) encoding the mouse β 2 -glycoprotein I, including 5′ and 3′ flanking sequences, has been isolated and characterized. The gene covers approximately 18 kb and...
Velo–cardio–facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80–85% of VCFS/DGS patients. Both syndromes are thought to be the result of a developmental field defect. Using two independent gene isolation...
Decreased expression of the humanKAI1metastasis-suppressor gene is involved in the progression of human prostatic cancer and possibly lung and breast cancer. To evaluate the frequency of mutation and allelic loss during the progression of human cancer, as well as to determine the regulatory mechanism for the expression of theKAI1gene in normal and cancerous tissues, we characterized the 5′-promoter...
Zfy1andZfy2are homologous zinc finger genes on the mouse Y Chromosome. To ask whether these genes are properly classified as members of theZFYfamily, we have characterized and compared their genomic organization to that of mouseZfx,humanZFX,and humanZFY.We show thatZfy1has 11 exons distributed across at least 56 kb, andZfy2has a minimum of 9 exons distributed across at least 52 kb. TheZfy2locus contains...
Fibroblast growth factor receptor 3 (FGFR3) is a developmentally regulated transmembrane protein. Three other FGFRs (1, 2, and 4) in conjunction with FGFR3 are part of the receptor tyrosine kinase superfamily. Mutations in three of these genes (FGFR1, 2, and 3) have been determined to be the cause of human growth and developmental disorders. We have characterized a 22-kb DNA fragment containing the...
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