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PubMed1998

The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.

Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a 460-kD receptor, cubilin, present in the epithelium of intestine and kidney. Surface plasmon resonance analysis of ligand-affinity-purified human cubilin demonstrated a high-affinity calcium- and cobalamin-dependent binding of IF-cobalamin. Complete cDNA cloning of the human receptor showed a 3597 amino acid peripheral membrane protein with 69% identity to rat cubilin. Amino-terminal sequencing of the receptor indicates that the cDNA sequence encodes a precursor protein undergoing proteolytic processing due to cleavage at a recognition site (Arg7-Glu8-Lys9-Arg) for the trans-Golgi proteinase furin. Using fluorescence in situ hybridization, radiation hybrid mapping, and screening of YAC clones, the human cubilin gene was mapped between the markers D10S1661 and WI-5445 on the short arm of chromosome 10. This is within the autosomal recessive megaloblastic anemia (MGA1) 6-cM region harboring the unknown recessive-gene locus of juvenile megaloblastic anemia caused by intestinal malabsorption of cobalamin (Imerslund-Gräsbeck's disease). In conclusion, the present molecular and genetic information on human cubilin now provides circumstantial evidence that an impaired synthesis, processing, or ligand binding of cubilin is the molecular background of this hereditary form of megaloblastic anemia.

Amino Acid Sequence↗
PubMed2002

Quantitative trait loci and candidate genes regulating HDL cholesterol: a murine chromosome map.

OBJECTIVE: Summarizing the many discovered mouse and human quantitative trait loci (QTL) for high density lipoprotein (HDL) cholesterol (HDL-C) levels is important for guiding future research on the genetic regulation of HDL concentrations and for finding gene targets for upregulating HDL levels in mice and humans. METHODS AND RESULTS: We summarized the 27 QTL and candidate genes associated with HDL-C concentrations in mice and plotted them on a mouse chromosome map. We also summarized the 22 human QTL for HDL-C levels and compared them with those of the mouse by comparative genomics. At least part of the mouse homologies for 18 of the 22 human HDL-C QTL were within the murine HDL-C QTL. CONCLUSIONS: Murine QTL for HDL-C levels may predict their homologous location in humans, and their underlying genes may be appropriate genes to test in humans.

Animals↗
PubMed1991

Glycolytic pathway of the human malaria parasite Plasmodium falciparum: primary sequence analysis of the gene encoding 3-phosphoglycerate kinase and chromosomal mapping studies.

We have isolated and characterised the gene (PGK) encoding the glycolytic enzyme 3-phosphoglycerate kinase (PGK) from the human malaria parasite Plasmodium falciparum. This was achieved using the polymerase chain reaction (PCR) to amplify genomic DNA with primers constructed on the basis of conserved regions identified within PGK molecules of other organisms, and using the PCR product to isolate genomic clones. The gene is present in a single copy, encoding a protein of 416 amino acids (aa). The predicted aa sequence (45.5 kDa) displays approx. 60% identity to both human and yeast PGK molecules, and of the three P. falciparum glycolytic enzymes reported to date, has the greatest sequence identity to the host homologue. All aa residues implicated in substrate and cofactor binding and catalysis are conserved in the malarial PGK molecule, but there are major differences in overall composition, with implications for enzyme stability. In asexual blood-stage parasites, a single mRNA transcript of approx. 2.1 kb is observed. We have mapped the PGK gene to chromosome 9 of the parasite, and a further gene encoding a glycolytic enzyme, aldolase, to chromosome 14.

Amino Acid Sequence↗
PubMed1986

Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.

Apolipoprotein B (apoB) is the major protein component of low-density and very-low-density lipoproteins. We have recently isolated nonoverlapping cDNA clones for apoB and confirmed their identity by sequence comparisons. We now report the mapping of the human apoB gene (APOB) to the p23-p24 region of chromosome 2 by examination of human-mouse somatic cell hybrids and by in situ hybridization to human chromosomes. Thus, APOB is unlinked to members of the dispersed gene family encoding other apolipoprotein species or to the gene encoding the low-density lipoprotein receptor. Hybridization analysis with genomic DNA and liver and intestinal mRNA suggests that APOB encodes both the high-molecular-weight form of apoB (apoB100) incorporated into very-low-density lipoproteins in liver and the lower-molecular-weight form (apoB48) incorporated into chylomicrons in intestine. Restriction fragment length polymorphisms of APOB have been identified and should prove useful in examining the possibility that genetic variations of APOB are involved in dyslipoproteinemias and atherosclerosis.

Apolipoproteins B↗
PubMed1992

Chromosomal mapping of human cytokeratin 13 gene (KRT13).

In the present study the human cytokeratin 13 gene (KRT13), encoding a polypeptide characteristic of internal stratified epithelia, has been mapped with the help of the polymerase chain reaction and somatic cell hybrids to chromosome 17. In situ hybridization of a KRT13 cDNA probe to metaphase chromosomes allowed the assignment of the KRT13 gene within the q12-q21.2 region of chromosome 17.

Base Sequence↗
PubMed1997

Mapping chromosomal homology between humans and the black-handed spider monkey by fluorescence in situ hybridization.

We hybridized human chromosome-specific DNA probes to metaphases of the New World monkey Ateles geoffroyi to map the chromosomal homology between these two species. In the haploid Ateles geoffroyi karyotype the total number of signals was 51 for the 22 human autosomal probes used. Compared with Old World monkeys, the number of translocations found in the black-handed spider monkey karyotype was quite striking. The majority of these translocations are apparently Robertsonian and no reciprocal translocations were revealed. Nine autosomal human chromosome probes (11, 13, 14, 17, 18, 19, 20, 21, 22) provided only two signals each per metaphase, but six of these were translocated to subregions of different spider monkey chromosomes. The other 13 autosomal human chromosome paints (1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 15, 16) provided fragmented signals. Three human probes (5, 8, 10) provided signals located on two pairs of spider monkey chromosomes. Four human paints (2, 3, 4, 12) provided hybridization signals on three pairs of chromosomes. Probes 6, 7, 15 provided six signals each on two pairs of chromosomes; probe 16 gave eight signals on two pairs of spider monkey chromosomes and probe 1 gave 12 signals on four pairs of chromosomes. The synteny between segments to human 18/8 appears to be an apomorphic ancestral condition for all New World monkeys. A synteny between regions homologous to human 16/10, 5/7 and 2/16 HSA is probably an apomorphic ancestral condition for all Cebidae. The syntenic association 3/15 and 4/1 is an apomorphic condition for the Atelinae.

Animals↗
PubMed1989

Chromosome maps of man and mouse. IV.

Current knowledge of man-mouse genetic homology is presented in the form of chromosomal displays, tables and a grid, which show locations of the 322 loci now assigned to chromosomes in both species, as well as 12 DNA segments not yet associated with gene loci. At least 50 conserved autosomal segments with two or more loci have been identified, twelve of which are over 20 cM long in the mouse, as well as five conserved segments on the X chromosome. All human and mouse chromosomes now have conserved regions; human 17 still shows the least evidence of rearrangement, with a single long conserved segment which apparently spans the centromere. The loci include 102 which are known to be associated with human hereditary disease; these are listed separately. Human parental effects which may well be the result of genomic imprinting are reviewed and the location of the factors concerned displayed in relation to mouse chromosomal regions which have been implicated in imprinting phenomena.

Animals↗
PubMed1995

The murine lymphotoxin-beta receptor cDNA: isolation by the signal sequence trap and chromosomal mapping.

To isolate novel molecules involved in intercellular signaling during mouse embryogenesis, we employed the signal sequence trap (SST) method, a newly developed strategy for cloning secreted proteins and type I membrane proteins. We constructed an SST cDNA library of mouse embryonic heart mRNA, screened 2000 clones, and acquired 1 positive clone that appeared to contain the signal sequence. Homology searches revealed that this clone encodes the mouse lymphotoxin-beta receptor (LT beta-R). The deduced amino acid sequence of the mouse LT beta-R was 66% identical to that of the human LT beta-R. Northern analysis of various organs in adult mice showed that expression levels of LT beta-R mRNA were strong in lung, liver, and kidney, moderate in heart and testis, but weak in brain, thymus, spleen, and lymph nodes. Since the mouse LT beta-R was already expressed in 7-day-postcoitus embryo, the LT beta/LT beta-R system might have some functions in early embryogenesis. We performed chromosomal mapping of the murine LT beta-R gene by linkage analysis with recombinant inbred mouse strains and found that its locus is very close to the tumor necrosis factor receptor 1 gene on chromosome 6.

Amino Acid Sequence↗
PubMed1988

Chromosomal mapping of the prolactin/growth hormone gene family in the mouse.

The chromosomal assignments of genes in the PRL/GH family in the mouse have been determine in mouse-hamster hybrid cell lines. Mouse GH (mGH) appears to be encoded by a single copy gene located on chromosome 11 and is part of a highly conserved region between mouse chromosome 11 and human chromosome 17. All of the other genes in this hormone family, including those encoding mPRL, mouse placental lactogens I and II, and mouse proliferin and proliferin-related protein, map to chromosome 13.

Animals↗
PubMed1992

Chromosomal mapping of human kininogen gene (KNG) to 3q26----qter.

The structural gene for human kininogen (KNG) was localized to chromosome 3q26----qter by in situ hybridization. The assignment substantiates the evolutionary relationship of kininogen to two other members of the cystatin superfamily, alpha-2-HS-glycoprotein and histidine-rich glycoprotein, which also map to chromosome 3.

Blood Proteins↗
PubMed1992

Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12).

Abasic (AP) sites in DNA are produced spontaneously and by many genotoxic agents. The repair of such damages is initiated by AP endonucleases, which are evidently ubiquitous. We employed the recently cloned cDNA, APE, that encodes the major human AP endonuclease, to isolate large genomic fragments that contain the intact APE gene. The sequence of 3 kb encompassing APE was determined (GenBank Accession No. M99703). The APE gene contains four small introns (ranging 130 to 566 bp) and five exons, the first of which is untranslated. The 0.5 kb of DNA sequence upstream of APE did revealed only a possible CCAAT box, but no other regulatory sites or a TATA box, consistent with the constitutive expression of AP endonuclease activity observed in other studies. The location of APE in the human genome was mapped to chromosome 14, bands q11.2-12, by fluorescence in situ hybridization of metaphase cells with DNA from the genomic clones and subclones. Although this locus has not been associated causally with genetic diseases of DNA repair, some translocations that affect 14q11.2-12 could compromise APE and lead to genetic instability.

Base Sequence↗
PubMed1994

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary.

Fluorescence in situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will help to clarify phylogenetic relationships. We used a DNA library established by microdissection and microcloning from the entire long arm of human chromosome 2 for fluorescence in situ hybridization and comparative mapping of the chromosomes of human, great apes (Pan troglodytes, Pan paniscus, Gorilla gorilla, Pongo pygmaeus) and Old World monkeys (Macaca fuscata and Cercopithecus aethiops). Inversions were found in the pericentric region of the primate chromosome 2p homologs in great apes, and the hybridization pattern demonstrates the known phylogenetically derived telomere fusion in the line that leads to human chromosome 2. The hybridization of the 2q microlibrary to chromosomes of Old World monkeys gave a different pattern from that in the gorilla and the orang-utan, but a pattern similar to that of chimpanzees. This suggests convergence of chromosomal rearrangements in different phylogenetic lines.

Animals↗
PubMed1968

Chromosome mapping in Staphylococcus aureus.

The genome of Staphylococcus aureus was mapped by enumerating mutants induced by nitrosoguanidine during synchronous chromosomal replication following release from phenethanol inhibition. Both chromosomal replication time and cell division time were 120 min for this strain of S. aureus. Duplication of genes occurred within a 10-min period of the 120 min required for chromosomal replication. A high-resolution method was devised to determine the gene order of four genes that duplicated in the same 10-min interval of replication of the chromosome. A genomic map locating the positions of 10 genes was derived.

Cell Division↗
PubMed2002

Chromosomal mapping of host susceptibility loci to Angiostrongylus costaricensis nematode infection in mice.

Angiostrongylus costaricensis is a nematode found mainly as a rodent parasite. Laboratory mice were experimentally infected with this parasite. It is known that there is great variability in mortality among inbred mouse strains after infection with this nematode. The survival rate at 5 weeks after infection of A/J mice was 90.5%, whereas that of SM/J mice was only 33.3%, with severe anemia and decreased body weight about 3 weeks after infection. To identify host susceptibility genes for infection with this nematode, we undertook chromosomal mapping by a whole-genome scanning approach in (A/JxSM/J)F2 mice. We mapped a host susceptibility locus (here designated Acsns, for Angiostrongylus costaricensis nematode susceptibility locus) to the telomeric portion of Chromosome 19 (peak LOD=4.35). We also identified two loci on Chr 13 and Chr 17 that have epistatic effects on host survival. This is the first report on host susceptibility loci for helminth infection mapped by whole-genome scanning.

Angiostrongylus↗
PubMed1995

Cloning and chromosomal mapping of the mouse Mgat3 gene encoding N-acetylglucosaminyltransferase III.

Complex and hybrid N-linked carbohydrates synthesized by mammalian cells may possess a N-acetylglucosamine residue known as the bisecting GlcNAc. The transfer of this residue is catalyzed by the enzyme UDP-N-acetylglucosamine:beta-D-mannoside beta 1,4-N-acetylglucosaminyltransferase III (GlcNAc-TIII; EC 2.4.1.144). To begin to investigate biological functions for carbohydrates with a bisected GlcNAc residue, we have cloned and partially characterized the mouse gene (Mgat3) encoding GlcNAc-TIII. A rat GlcNAc-TIII-encoding cDNA was used to isolate clones from a mouse strain 129 Sv liver genomic DNA library. An NsiI genomic DNA fragment containing an ORF with 96% identity to rat GlcNAc-TIII was subcloned into a mammalian expression vector and transfected into Chinese hamster ovary (CHO) cells. The transfectants expressed GlcNAc-TIII activity only when the ORF was in the sense orientation. Southern analysis showed that Mgat3 is present in a single copy in the mouse genome. Mapping by restriction-fragment length polymorphism analysis of backcross progeny located Mgat3 to mouse chromosome 15, at a position homologous with region 22q12.3-q13.1 in the human genome. Northern analyses of adult tissues showed that Mgat3 is expressed at high levels in kidney and brain, and at lower levels in many other tissues.

Amino Acid Sequence↗
PubMed1999

Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human.

LRP7 (the HGMW-approved gene symbol for LR3) is a novel member of the low-density lipoprotein receptor (LDLR) family. The unique modular features in both its extracellular and its intracellular regions and functional analysis suggest it to be a multifunctional protein with mitogenic activity and potential ligand-induced signal transduction capability. We describe here the cloning of Lrp7, the orthologue of the human LRP7 gene, from a mouse liver cDNA library and its expression profile in mouse tissues and developmental stages. Lrp7 is highly homologous to the human sequence, with 95% identity at the amino acid level and a perfect conservation of all the recognizable functional domains. A 6-kb mRNA transcript could be detected in all the tissues examined, with the highest expression levels in liver, heart, and lung and the lowest levels in brain and spleen. A similar expression level of a smaller transcript (4.5 kb) was seen at the four embryonic stages examined. We mapped the Lrp 7 gene to mouse chromosome 19B and the LRP7 gene to human chromosome 11q13.4. The LRP7 gene was also localized by radiation hybrid mapping between markers D11S24270 and D11S1975.

3T3 Cells↗