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.
Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA heteroduplexes, likely representing DNA shared identical by descent between the two...
Mapping genes that underlie complex genetic traits, including genes that determine susceptibility to common diseases, requires an efficient method for high-resolution genotyping. Single-nucleotide differences between pairs of allelic sequences from unrelated individuals occur approximately once in every kilobase. Genomic mismatch scanning (GMS), by analyzing numerous single-nucleotide polymorphisms...
We have determined the genomic structure and organization of the mouseCenpaandCenpcgenes. CENPA is a member of the histone H3-like proteins and is thought to replace histone H3 in centromeric nucleosomes. CENPC is a DNA-binding protein that is located at the inner kinetochore plate of active mammalian centromeres. TheCenpacDNA encodes a 134-amino-acid product that is 70% identical and 84% similar...
The human prostate is a complex glandular organ with functional development under hormonal regulation. Diseases of the prostate result in significant morbidity and mortality in the form of benign prostatic hypertrophy and prostate adenocarcinoma. The characterization of the molecular framework of the human prostate at the level of expressed genes will facilitate the understanding of normal and pathological...
We isolated the human glutamate receptor δ2 (GRID2) gene, which has 97.0% identity in amino acid sequence to the mouse glutamate receptor δ2 (Grid2) gene. We subsequently mapped this gene to human chromosome 4q22 by radiation hybrid mapping and by hybridization to two overlapping human yeast artificial chromosomes that are located in 4q22. TheGrid2gene, which is mutated in lurcher (Lc) mice, maps...
A 30-kb genomic segment containing the promoter and first 9 exons ofPRKDC,the gene encoding the catalytic subunit (DNA-PKcs) of the human DNA-activated protein kinase, DNA-PK, was isolated and partially sequenced. Sequence comparison with the NCBI nonredundant database revealed the locations of the first 13 exons of the upstream gene,MCM4.MCM4 is an essential component of a protein complex that prevents...
Exon trapping was performed from a partial cosmid, PAC, and P1 clone contig from human chromosome 21 betweenMX1and 21qter to identify genes that may be involved in the pathogenesis of Down syndrome or several of the genetic diseases that map to chromosome 21q22.3. One 19-bp exon showed identity to three ESTs. The complete sequence of the EST clones, RT-PCR, and cDNA library screening were used to...
All 12 of the human CXC chemokine genes were physically mapped using gene-specific PCR primers and the GenBridge 4 radiation hybrid panel. Nine genes, PF4, PF4V1, GRO1, GCP2, PPBP, IL8, GRO2, GRO3, and SCYB5, were assigned within a 1.8-cR interval of one another on 4q. Two additional genes, MIG and INP10, map within 0.5 cR of each another and 6 cR distal to the above-mentioned group. The final gene,...
The mouse chondroadherin gene was isolated from a cosmid genomic library by the use of a rat chondroadherin cDNA probe. Southern blot analysis of mouse genomic DNA revealed a simple pattern of hybridization indicating a single copy gene for chondroadherin. The mouse chondroadherin gene encompasses 4.1 kb and consists of four exons separated by one large intron of 1929 bp followed by two smaller introns...
The mouse gene encoding preproinsulin 2 (Ins2) is located on the distal end of chromosome 7 in a region of several hundred kilobases that contains several imprinted genes. The exclusive expression of theIns2paternal allele in the visceral yolk sac during the last part of gestation indicates thatIns2also is imprinted. However, in other tissues in whichIns2is expressed, both alleles are active at all...
The human ubiquitin-homology domain protein PIC1 interacts with the acute promyelocytic leukemia protein PML, and both proteins form part of the large, nuclear, multiprotein complexes known as PML nuclear bodies. The normal punctate immunohistochemical staining pattern of these complexes is disrupted by viral infection or interferon treatment and in blast cells from patients with acute promyelocytic...
Stac is a novel neuron-specific protein consisting of a cysteine-rich domain and an SH3 domain. We determined the chromosomal location of both the mouse and the human Stac genes (StacandSTAC). By linkage analysis using a mouse recombinant inbred (RI) strain panel (BXD), it was determined thatStacis located betweenD9mit15andD9mit20at the distal region of chromosome 9, around which two neurological...
We have assembled a high-resolution physical map of human chromosome 13 DNA (∼114 Mb) from hybridization, PCR, and FISH mapping data using a specifically designed set of computer programs. Although the mapping of 13p is limited, 13q (∼98 Mb) is covered by an almost continuous contig of 736 YACs aligned to 597 contigs of cosmids. Of a total of 10,789 cosmids initially selected from a chromosome 13-specific...
The humanninjuringene was isolated from a cDNA library enriched for transcripts from band 9q22. A 1.2-kb message was detected forninjurinin all human tissues studied. The full-length sequence codes for a putative 152-amino-acid protein with 89% identity to the rat ninjurin protein. The mouse homologue was isolated and showed 98% amino acid identity to the rat protein. Mapping by FISH localized mouseninjurinto...
Susceptibility to the development of asthma and other atopic diseases is known to be associated with genetic components, and several candidate genes have been reported to be linked to atopy and asthma. We have examined a linkage between traits of specific IgE responses to the house dust mite and its purified allergens, high total serum IgE levels and asthma, and the markers at the T-cell receptor...
We have isolated the genes for the eph receptor family ligands mouse LERK-3/Ephrin-A3 (Epl3), mouse LERK-4/Ephrin-A4 (Epl4), and human LERK-6/Ephrin-A2 (EPLG6). These genes show a high level of conservation in their intron/exon structures encoding the receptor-binding region. In addition, the nucleotide sequences of the genes reveal the predicted cDNA sequence of mouse LERK-3/Ephrin-A3, mouse LERK-4/...
Mouse and rat genome studies are vital to the use of rodents as models of biology and human genetic disease. In this study, comparative cytogenetic maps of individual homologous mouse (Mus musculus) and rat (Rattus norvegicus) chromosomal regions are presented as defined by cross-species fluorescencein situhybridization. Such “Zoo-FISH” methods permit direct visual observation of the location of DNA...
Cyclin-dependent kinases (CDKs), which play a key role in cell cycle control, are activated by the CDK-activating kinase (CAK), which activates cyclin-bound CDKs by phosphorylation at the specific threonine residue. Mammalian CAK contains three components: CDK7, cyclin H, and an assembly factor called MAT1. The CDK7–cyclin H–MAT1 complex is tightly associated with a multiprotein complex TFIIH, which...
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.