Report of the committee on the genetic constitution of chromosomes 10, 11, and 12

Gerald, P.S.; Grzeschik, K.H.

doi:10.1159/000132006

Cited by 36 publications

(8 citation statements)

References 26 publications

(35 reference statements)

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“…Hybrids in which a chromosome was present in less than 15% of metaphases or in which a chromosome-specific enzyme or DNA probe was only weakly positive were excluded from the discordancy calculation. Human-hamster or human-mouse somatic cell lines were selected and karyotyped as previously described (18,(27)(28)(29). DNA was isolated from the cells at the time of karyotyping and isoenzyme analysis.…”

Section: Methodsmentioning

confidence: 99%

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.

Gold¹,

Dongen²,

Morton³

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

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The T3 complex is composed of three polypeptide chains that are both structurally and functionally associated with the receptor for antigen on the surface of human T lymphocytes. In a series of experiments utilizing both somatic cell hybrids and chromosomal hybridization in situ, the genes encoding two members of the human T3 complex, T3-6 and T3-e, were found to reside on the long arm of chromosome 11 in band q23. The murine T3-e gene was localized to chromosome 9. The location of the T3-6i and T3-E genes with respect to the Hu-ets-l gene, which is also located in 11q23, is discussed. Recent assignments of several genes, preferentially expressed in human cells of hematopoietic and neuroectodermal origins, to band q23 of human chromosome 11 and the murine equivalents to murine chromosome 9 may defre a conserved gene cluster important in cell proliferation and differentiation.T lymphocytes recognize foreign antigens in association with molecules of the major histocompatibility complex (MHC) via a complex composed of at least five membrane proteins, the so called T3/T-cell receptor complex (1-3). Earlier, we hypothesized that, after recognition of foreign antigen by the a and , chains of the disulfide-linked heterodimeric T-cell antigen receptor, signal transduction of the recognition event occurs via the three T3 polypeptide chains, y, 8, and E (4).The genes encoding the a and ,B chains in both humans and mice have been cloned (5-8) and shown to be genetically unlinked (9-12) members of the immunoglobulin supergene family (reviewed in ref. 13). Recently, we have published our findings on the cDNA and genomic cloning of the human and murine T3-8 chain (14-16) and the cDNA cloning of the human T3-E chain (17). In an analysis of the amino acid sequence of the T3-3 and T3-E proteins predicted from their cDNA sequences, we noted that a partial structural homology existed that might account for the association of these two chains with the T-cell receptor heterodimer (17). Previously we assigned the human T3-8 gene to the long arm of chromosome 11 in the region llq23--qter and the murine equivalent to chromosome 9 (18). Hence, we were interested in defining the location of the T3-E gene to determine whether these two genes, T3-5 and T3-e, whose protein products are members of a functional complex, would be associated in the genome. The present study shows that the human T3-e gene is also found on human chromosome 11 and the murine equivalent is on murine chromosome 9. Further, as determined by chromosomal in situ hybridization studies, we show that the genes coding for both human T3-5 and T3-E are located in band 11q23, a region known to contain several genes believed to be important in proliferation and differentiation of cells of hematopoietic and neuroectodermal origins (19-24). MATERIALS AND METHODSSomatic Cell Hybrids. DNA from three panels of humanrodent somatic cell hybrids was used to determine the segregation of the human T3-E gene. The first two panels were derived from the fusion of the hypoxanthine p...

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Section: Methodsmentioning

confidence: 99%

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.

Gold¹,

Dongen²,

Morton³

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

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“…linked to vWF. The proposed linkage between glutamate-pyruvate-transaminase [mapped to chromosome 8 or 16 (29)] and vWD (5) now appears to be unlikely. It is possible, however, that some subtypes of vWD are the result of genetic defects at loci involved in posttranslational processing, modification, or transport of vWF.…”

Section: June 1985mentioning

confidence: 99%

Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

Ginsburg

Handin

Bonthron

et al. 1985

Science

403

200

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Human factor VIII--von Willebrand factor (vWF) is a large, multimeric glycoprotein that plays a central role in the blood coagulation system, serving both as a carrier for factor VIIIC (antihemophilic factor) and as a major mediator of platelet-vessel wall interaction. Diminished or abnormal vWF activity results in von Willebrand's disease (vWD), a common and complex hereditary bleeding disorder. Overlapping vWF cDNA clones that span 8.2 kilobases of the vWF messenger RNA have been obtained. vWF accounts for approximately 0.3 percent of endothelial cell messenger RNA and was undetectable in several other tissues examined. A large single copy gene for vWF is located on the short arm of chromosome 12 (12p12----12pter). No gross gene rearrangement or deletion was detected in the DNA of two patients with severe vWD.

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“…As predicted from the results of the DNA mapping panel, should be emphasized that the presence of chromosome 11 the 14-kb HindIII T3-8 chain fragment is present in the cell in the somatic cell hybrids used for the chromosome assignline JR. Hybridization to human sequences with the 700-bp ment of the T3-8 chain was determined by analysis of exprescDNA insert of pPGBC#9 was observed in HindIII digests sion of the LDH-A and ACP-2 isozymes as well as by cyto-of DNA at the 14-kb position derived from cell line J1-10, genetic detection (16). Moreover, DNA clones coding for , whereas no hybridization to these sequences was detected in globin, LDH-A, and apolipoproteins A-I and C-III were used J1-11 and J1-1OA (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Two of the donors were karyotypically normal males and two were female carriers of different, reciprocal X/19 translocation chromosomes: namely, the X/19W translocation t(X;19) (q23-25::q13) (13) and the X/19B translocation t(X;19) (ql::?p). The various cloned somatic hybrids have been characterized extensively for the presence of human chromosome complements by analysis of human isozyme markers characteristic of each chromosome and by cytogenetic techniques (14)(15)(16). In addition, cloned DNA probes have been used to monitor 20 of the human autosomes and the X chromosomes in the DNAs of the mapping panels used in the present study (17)(18)(19)(20)(21).…”

Section: Methodsmentioning

confidence: 99%

Assignment of the gene coding for the T3-delta subunit of the T3-T-cell receptor complex to the long arm of human chromosome 11 and to mouse chromosome 9.

Elsen¹,

Bruns²,

Gerhard³

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

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The gene encoding the 20-kDa glycoprotein of the T3-T-cell receptor complex (T3-delta chain) has been mapped to human chromosome 11 by hybridization of a T3-delta cDNA clone (pPGBC#9) to DNA from a panel of human-rodent somatic cell hybrids. In Southern blotting experiments with DNAs of somatic cell hybrids that contained segments of chromosome 11, we were able to assign the T3-delta gene to the distal portion of the long arm of human chromosome 11 (11q23-11qter). By use of a newly developed cDNA clone (pPEM-T3 delta) that codes for the murine T3-delta chain, the mouse T3-delta gene was mapped on chromosome 9. The importance of the T3-delta map position and its relationship to the other genes on the long arm of human chromosome 11 and to those on mouse chromosome 9 is discussed.

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Report of the committee on the genetic constitution of chromosomes 10, 11, and 12

Cited by 36 publications

References 26 publications

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.

Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

Assignment of the gene coding for the T3-delta subunit of the T3-T-cell receptor complex to the long arm of human chromosome 11 and to mouse chromosome 9.

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