Localization of the human c-kit protooncogene on the q11–q12 region of chromosome 4

Summary Using a 166-nucleotide-long DNA synthetic probe corresponding to the v-kit sequence (1458-1623), we have mapped the human c-kit gene to chromosome 4 at the q11–q12 band by in situ hybridization on chromosomes from human lymphocyte preparations.     

Assignment of the gene for human tenascin to the region q32–q34 of chromosome 9

Summary Tenascin (TN) is a hexameric extracellular matrix glycoprotein that is highly expressed in solid tumors but has a restricted distribution in normal adult tissues. Each TN subunit is composed of segments with high homology to the sequences of epidermal growth factor, fibronectin and fibrinogen. Furthermore, it has been suggested that TN could modulate epithelial-mesenchymal and neuronal-glial interactions. Here, using a cDNA probe to human TN, we have carried out Southern blot analysis of the genomic DNAs from a panel of human-hamster somatic cell hybrids carrying different complements of human chromosomes. The results demonstrate that the human TN gene is located on chromosome 9. Furthermore, in situ hybridization studies demonstrate that human TN is located at 9q32–q34.     

Localization of the human progesterone receptor gene to chromosome 11q22–q23

Summary The human progesterone receptor gene was mapped by in situ hybridization using two cDNA probes corresponding to the 5′ and 3′ part of the coding sequence. This gene was localized to 11q22-q23.     

Sublocalization of the human protein C gene on chromosome 2q13–q14

Summary The localization of human protein C gene on chromosome 2 was investigated by in situ hybridization using a partial cDNA for protein C. Silver-grain analysis indicates that the protein C gene is located on 2q13-q14.     

Regional assignment of the human C1-inhibitor gene to 11q11–q13.1

Summary In situ hybridisation using a biotinylated 1.8kb human cDNA clone in both normal and structurally abnormal chromosomes supports regional localisation of the gene for human C1-inhibitor to chromosome 11q11-q13.11.     

New gene in the homologous human 11q13–q14 and mouse 7F chromosomal regions

Alterations in the chromosomal region 11q13–11q14 are involved in several pathologies in which most of the key genes remain to be identified. In an effort to isolate as many candidates as possible, we are cloning genes from this region. We report here the mapping for a new sequence from 11q13.5–11q14. This sequence, designated D11S833E, putatively encodes a new gene, provisionally named GARP. We cloned its homologous sequence in the mouse and located it on Chromosome (Chr) 7, region F. The human and mouse genes belong to a conserved group of synteny. This, together with the similar conservation of the FGF and TYR genes, indicates that the human 11q13–q14 and mouse 7E-7F regions share homology.     

Localization of the gene for human erythrocyte glycophorin C to chromosome 2, q14–q21

Summary A complementary cDNA clone (900 bp) representing the 3 untranslated region and almost the entire coding sequence of the human erythrocyte membrane glycophorin C has been used to determine the chromosomal location of the blood group Gerbich locus by in situ hybridization. The results indicate that this locus is assigned to the region q14–q21 of chromosome 2.     

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3–q22.1

A cDNA coding for a human Graves' disease autoantigen (hGT) has been isolated from a thyroid expression library. Using this cDNA as a probe, the gene for hGT, previously assigned to chromosome 10, has been further localized to 10q21.3–q22.1 by non-isotopic in situ hybridization.     

Assignment of the human aggrecan gene AGC1 to 15q25→q26.2 by in situ hybridization

The human aggrecan gene (AGC1) has been localized to 15q25q26.2 by in situ hybridization. Although no genetic diseases of connective tissue map to this location, the malignant melanoma-associated surface antigen mel-CSPG is located here; mel-CSPG is a chondroitin sulfate proteoglycan. This raises the possibility that AGC1 and mel-CSPG may be the same gene.     

Assignment of the sorbitol dehydrogenase locus to human chromosome 15 pter→q21

The locus for sorbitol dehydrogenase (SORD, E.C. 1.1.1.14) has been shown to segregate with hexosaminidase A and mannose phosphate isomerase in a series of human-Chinese hamster somatic cell hybrids. Cytogenetic analysis supports the assignment to chromosome 15 and further defines the gene locus to the region 15pterq21.This research was supported by the Medical Research Council of Canada (MT 4061), the Children's Hospital of Winnipeg Research Foundation, Inc., and the Department of Health, Province of Manitoba (H.S.W.).     

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3

Summary Uroporphyrinogen III synthase [UROS; hydroxymethylbilane hydro-lyase (cyclizing), EC 4.2.1.75] is the fourth enzyme in the human heme biosynthetic pathway. The recent isolation of the cDNA encoding human UROS facilitated its chromosomal localization. Human UROS sequences were specifically amplified by the polymerase chain reaction (PCR) from genomic DNA of two independent panels of human-rodent somatic cell hybrids. There was 100% concordance for the presence of the human UROS PCR product and human chromosome 10. For each of the other chromosomes, there was 19%–53% discordance with human UROS. The chromosomal assignment was confirmed by Southern hybridization analysis of DNA from somatic cell hybrids with the full-length UROS cDNA. Using human-rodent hybrids containing different portions of human chromosome 10, we assigned the UROS gene to the region 10q25.2 q26.3.     

Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22

Summary A 1.1-kb cDNA clone for human 2,3-bisphospho-glycerate mutase (BPGM) (EC2.7.5.4) was used to map the structural gene to metaphase chromosomes. In situ hybridization experiments localized the human BPGM gene to chromosome 7 and, more precisely, to region 7q34→7q22.     

The development of the antigenic structures of human α1-antichymotrypsin and C 1 q

Summary The cross-reactions of human ₁-antichymotrypsin and C 1 q with their homologues in the plasmas of the chimpanzee, several Old World monkeys and nine non-primate eutheria were investigated by standard procedures. The results show that cross-reactions are limited to the first species mentioned. Comparative Ouchterlony tests and absorption controls revealed the presence of two (human) determinants on both human and chimpanzee molecules, while the cercopithecoids analyzed carried only one of them on their homologue. The results are discussed briefly with reference to earlier findings from this laboratory.

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Zusammenfassung Die Kreuzreaktionen des menschlichen ₁-Antichymotrypsin und des C 1 q mit seinen Homologen im Plasma des Schimpansen, einiger Altweltaffen und demjenigen von 9 Nichtprimaten (Eutheria) wurden mit Standardmethoden untersucht. Die Ergebnisse zeigen, daß Kreuzreaktionen auf die zuerst genannten Species beschränkt sind. Vergleichende Ouchterlony-Tests und Absorptionskontrollen ließen die Anwesenheit zweier (menschlicher) Determinaten auf den Molekülen des Menschen und des Schimpansen erkennbar werden, während die untersuchten Cercopithecoidea nur eine dieser Determinanten besitzen. Die Ergebnisse werden kurz im Zusammenhang mit früheren Befunden aus unserem Laboratorium diskutiert.

     

Colocalization of the genes coding for the α3 and β3 subunits of soluble guanylyl cyclase to human chromosome 4 at q31.3–q33

We have determined the chromosomal location of the human genes coding for the ₃ and ₃ subunits of soluble guanylyl cyclase (GC-S). The study was performed by in situ hybridization of human metaphase spreads with two human cDNA probes, containing the coding sequences of the GC-S ₃ and ₃ subunits, respectively. Each probe gave a strong specific signal on chromosome 4 at the 4q31.3–4q33 region, with the maximal signal in the 4q32 band. The colocalization of both genes in 4q32 represents an interesting feature for the coordinated regulation of expression of both GC-S subunits.     

Molecular linkage of the human αl-antitrypsin and corticosteroid-binding globulin genes on Chromosome 14q32.1

The genes encoding α1-antitrypsin (α1AT; gene symbol PI) and corticosteroid-binding globulin (CBG) are part of a cluster of structurally related serine protease inhibitor (serpin) genes on human Chromosome (Chr) 14q32.1. This cluster also includes the genes encoding α1-antichymotrypsin (AACT) and protein C inhibitor (PCI), as well as an α1-antitrypsin-related sequence (ATR; gene symbol PIL). In this report we present a detailed restriction map of a 110-kb region of genomic DNA that includes the α1AT, ATR, and CBG genes. Gene order in this interval is tel–α1AT–ATR–CBG–cen, and all three genes are transcribed in a distal-to-proximal orientation. Within the gene cluster, ATR is approximately 12 kb downstream of α1AT, and CBG is about 57 kb downstream of α1AT. Repetitive DNA sequences have been mapped throughout the interval, and several new restriction site polymorphisms in the region are described. Received: 25 May 1997 / Accepted: 23 July 1997     

Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2–q12.1

Summary The assignment of the human prealbumin (PALB) gene to chromosome region 18q11–q12.1 has been achieved using a human genomic probe in the study of human-mouse somatic cell hybrids and by in situ hybridization. Because familial amyloidotic polyneuropathy was reported previously to be due to a mutation in prealbumin, it can be inferred that the gene for this disorder also maps to 18q11.2–q12.1.     

Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12–21.1

Summary Insulin-like growth-factor-binding proteins (IGFBPs) constitute a family of structurally related proteins that specifically bind insulin-like growth factors and modulate their functions. In this study, the chromosomal localization was determined for the gene encoding IGFBP4, i.e. inhibitory-IGFBP. A polymerase chain reaction (PCR) fragment corresponding to the previously published cDNA sequence was used to isolate overlapping cosmid clones. By fluorescent in situ hybridization to metaphase chromosomes, the IGFBP4 gene was then localized to chromosomal region 17q21–21.1. This result was in agreement with PCR analysis of a panel of somatic cell hybrids.     

Regional localization of human ecto-5′nucleotidase to chromosome 6q14–q21

Summary Human and mouse hybrids that contain fragments of human chromosome 6 as translocations were analysed for expression of ecto-5nucleotidase enzymic activity measured by the conversion of AMP to adenosine and for antigenicity recognized by a monoclonal antibody specific for the human isozyme. Both methods allow a regional assignment of ecto-5nucleotidase to 6q14–q21.     

Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen→q13

A cDNA clone has recently been isolated that encodes a protein expressed only in the intermediate and late stages of T-cell differentiation, termed MAL. The polypeptide deduced from the MAL cDNA sequence contains four potential transmembrane domains. We have used a panel of 28 human × rodent hybrid cell lines to assign the MAL gene to the proximal long arm of human chromosome 2, region cenq13. The significance of the MAL map position and its relationship with other genes on chromosome 2 are discussed.     

The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

Summary The human gene encoding the -polypeptide of propionyl-CoA carboxylase (PCC) has hitherto been localized to the distal half of the long arm of chromosome 13, segment 13q22q34. We studied the enzyme activities of mitochondrial carboxylases in cell cultures obtained from patients with different deletions of chromosome 13. By setting the PCC activity in normal diploid cell cultures (control group) at 100%, cell cultures with trisomy 13 showed 150% activity. In contrast, one of four patients with partial monosomy 13 had an enzyme activity of only 50%. Thus, by comparative deletion mapping, combined with studies of the gene-dosage effect, we have been able to assign the PCCA gene locus to chromosome band 13q32.