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Biomedical subjects

M G Mattei

Publications and source records attributed to M G Mattei.

At least 343 records · Page 19Linked to original sources

The FGF-related oncogenes hst and int.2, and the bcl.1 locus are contained within one megabase in band q13 of chromosome 11, while the fgf.5 oncogene maps to 4q21.

Prompted by the observed co-amplification at the DNA level of the int.2 and hst fibroblast growth factor-related oncogenes in some tumor cells, we have investigated the precise localization of these two loci known to reside in band q13 of chromosome 11. We demonstrate by pulsed field gel analysis that these two genes are separated by only 40 kb, locate three HTF islands in their neighbourhood, and show that the bcl.1 locus (translocation breakpoint in B-cell proliferative malignancies) is not more than 1050 kb away. We also show that the fgf.5 gene which belongs to the same family is not part of this cluster and is located in band q21 of chromosome 4.

Cell Line↗

Activation of a mcf.2 oncogene by deletion of amino-terminal coding sequences.

The mcf.2 transforming sequence was previously identified by tumorigenicity-assay of the mammary carcinoma cell line MCF-7, molecularly cloned and localized to Xq27 by in situ hybridization. cDNA clones representing both the activated gene and the corresponding portion of its normal counterpart were isolated and their nucleotide sequence determined. Sequence analysis showed that the mcf.2 gene was activated by rearrangement and loss of 5' sequences and no other alteration. Comparison of the mcf.2 nucleotide sequence with the recently published dbl sequence (Eva, A., G. Vecchio, D. Rao, S. Tronick & S. Aaronson (1988) Proc. Natl. Acad. Sci. USA, 85, 2061-2065) revealed that mcf.2 and dbl represent two different activated versions of the same proto-oncogene.

Amino Acid Sequence↗

Chromosomal localization of the hst oncogene and its co-amplification with the int.2 oncogene in a human melanoma.

In this report we described the linkage between two oncogenes of the fibroblast growth factor family. Using in situ hybridization to human metaphase chromosomes we mapped the hst gene to chromosome 11 at band q13. This is also the location of the int.2 gene. Furthermore, the two genes are co-amplified in a human melanoma, raising the possibility that amplification in human tumors may be a mechanism of activation of genes of the FGF family.

Chromosome Mapping↗

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

Type VI collagen is a heterotrimer composed of three polypeptide chains, alpha 1(VI), alpha 2(VI), and alpha 3(VI). By immunological screening of an expression cDNA library, human cDNAs specific for each chain were isolated and characterized. Major mRNA species encoding these chains have a size of 4.2 kb (alpha 1), 3.5 kb (alpha 2), and 8.5 kb (alpha 3). The cDNA clones were also used to map the genes on human chromosomes by somatic cell hybrid analysis and in situ hybridization. The alpha 1 (VI) and alpha 2(VI) collagen genes were both located on chromosome 21, in band q223. This represents a third example of a possible physical proximity of two collagen loci. The alpha 3(VI) collagen gene was localized to chromosome 2, in the region 2q37. The alpha 3(VI) collagen gene is the fifth extracellular matrix gene to be localized to 2q, as four other extracellular matrix genes--i.e., the alpha 1(III) and alpha 2(V) collagen genes, the elastin gene, and the fibronectin gene--have been previously mapped to the distal region of the long arm of chromosome 2.

Amino Acid Sequence↗

[Balanced chromosome rearrangements with abnormal phenotype].

27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.

Chromosome Aberrations↗

Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.

We report the identification of a new RFLP detected by the DNA probe MN12, which is linked to both the fragile site on the X chromosome at Xq27.3 and the highly polymorphic locus detected by St14 (DXS52). In situ mapping confirms the localisation of MN12 distal to the fragile site. A detailed physical analysis of this region of the X chromosome using pulsed-field gel electrophoresis has shown that MN12, St14 and DX13 (DXS15) are physically linked within a region of 470kb. A long range restriction map around the MN12 locus reveals at least two candidate HTF islands, suggesting the existence of expressed sequences in this region.

Base Sequence↗

Localization of the mcf.2 transforming sequence to the X chromosome.

A transforming sequence was identified using co-transfection of DNA from the human mammary carcinoma cell line MCF-7 and of a G418 resistance gene into NIH 3T3 cells, followed by tumor formation in athymic mice. This sequence, named mcf.2, was molecularly cloned. A transforming activity resides in a cosmid clone of 42 kb. mcf.2 did not cross-hybridize with the known oncogenes tested. In situ hybridization localized it on the X chromosome, probably at q27. This localization was confirmed by hybridization to a panel of human--rodent cell line DNAs.

Animals↗

Monosomy 21: a new case confirmed by in situ hybridization.

A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.

Chromosome Deletion↗

Assignment of the human gamma-glutamyl transferase gene to the long arm of chromosome 22.

We have determined the chromosomal location of the human gene for gamma-glutamyltransferase (GGT). This study was done by in situ hybridization of human metaphase spreads with a rat cDNA probe specific for this enzyme and constructed from two clones previously characterized in our laboratory. The final construct had a 1.6-kb-long insert covering 92% of the coding sequence for GGT. The new insert was also freed of any GC tails introduced for the cDNA cloning, because we observed that these sequences were responsible for a high background. Using this probe for the analysis of 136 human metaphase spreads, we observed a strong specific signal on chromosome 22 at the interface of q111-112 and a minor peak in q131. Thus GGT might represent a new marker for the study of certain diseases which have chromosomal abnormalities at these loci.

Chromosome Banding↗

Testis-specific transcripts detected by a human Y-DNA-derived probe.

A genomic sequence (12f3), derived from the long arm of the human Y chromosome, detects a 1.6 kb mRNA, expressed in human and mouse testis, but not in other tissues tested by Northern blot analysis. Using 12f3 as a probe, a mouse cDNA, designated PL5, was isolated from an adult mouse testis cDNA library. The profile obtained by Southern blot analysis using PL5 as probe under high-stringency conditions, reveals that 12f3 probably represents a Y-located pseudogene which was derived from an autosomally located gene. Southern blot analysis of different vertebrate species, using probe PL5, shows that this gene has been highly conserved during evolution. Preliminary in situ hybridizations on testis tissue sections indicate that PL5 is expressed during the postmeiotic stages of male germ cell differentiation and thus may play a role during spermatogenesis. A second cDNA, also obtained from the testis cDNA library, weakly cross-reacts with 12f3. This cDNA, designated PL10, detects a mRNA of approximately 4 kb which is highly expressed in mouse testis, but not in male or female mouse liver. The gene corresponding to this cDNA is also well conserved among vertebrates.

Chromosome Mapping↗

[Partial trisomy 13 due to t(X;13) translocation. Contribution of in situ hybridization].

A new case of partial trisomy 13 through unbalanced de novo translocation t(X;13) is reported. In situ hybridization has been used to specify breakage points on the X chromosome. This case is cytogenetically comparable with another reported case; the phenotypical aspect of these two patients is however different. This discrepancy is discussed.

Chromosomes, Human, Pair 13↗

Mapping the mouse X chromosome: possible symmetry in the location of a family of sequences on the mouse X and Y chromosomes.

Major advances in our knowledge of the genetic organization of the mouse X chromosome have been obtained by the use of interspecific crosses involving Mus spretus-derived strains. This system has been used to study sequences detected by three probes 80Y/B, 302Y/B and 371Y/B isolated from a mouse Y-chromosome library which have been shown to recognize both male-female common and male-female differential sequences. These patterns are due to the presence of a family of cross-reacting sequences on the mouse X and Y chromosomes. Detailed genetic analysis of the localization of the X-chromosome-specific sequences using both a somatic cell hybrid panel and an interspecific mouse cross has revealed the presence of at least three discrete clusters of loci (X-Y)A, (X-Y)B and (X-Y)C. Two of these clusters, (X-Y)B and (X-Y)C, lie distally on the mouse X chromosome, the other cluster (X-Y)A being situated close to the centromere. In situ hybridization shows a striking symmetry in the localization of the major sequences on both the X and Y chromosomes detected by these probes, hybridization being preferentially localized to a subcentromeric and subtelomeric region on each chromosome. This striking localization symmetry between the X and Y chromosome sequences is discussed in terms of the extensive pairing of the X-Y chromosomes noted during meiosis.

Animals↗

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

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.

Chromosome Banding↗

Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1.

A cDNA probe corresponding to mRNA encoding human uroporphyrinogen decarboxylase (URO-D) was used to determine the chromosomal localization of the URO-D gene in the human genome. In agreement with previous studies, we have found that the locus for URO-D is located on chromosome 1 in hybrid cell mapping panels. The use of in situ hybridization allowed us to map the URO-D locus to band 1p34.

Animals↗