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PubMed1994

Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.

We currently use direct and reverse chromosome painting in prenatal diagnosis. In a family with a subtle 12;16 translocation, adjacent 1 segregation was diagnosed in the first child, a boy, in whom symptoms compatible with partial trisomy 16p and partial monosomy 12q were seen. In the next pregnancy, a chorionic villus biopsy was tested using chromosome painting. Only by supplementing conventional cytogenetic methods with molecular cytogenetic techniques could the true karyotype be unequivocally determined. Reverse painting, using DOP-PCR amplified, flow sorted paternal derivative chromosomes as a DNA library to paint the chorionic villus cells, was especially informative.

Abnormalities, Multiple↗
PubMed2000

The p53-inducible gene EI24/PIG8 localizes to human chromosome 11q23 and the proximal region of mouse chromosome 9.

Activation of the p53 tumor suppressor leads to either a cell cycle arrest or to apoptosis and the factors that influence these responses are poorly understood. It is clear, however, that p53 regulates these processes by inducing a series of downstream target genes. One recently identified p53-target gene, EI24 (alias PIG8), induces apoptosis when ectopically expressed. To better understand the biological properties of EI24 and its potential relevance to disease, in particular cancer, we determined the chromosomal location and pattern of gene expression of EI24. EI24 is widely expressed in adult tissues and throughout mouse embryogenesis. The genomic locus of EI24 was mapped to the proximal region of mouse chromosome 9 and human chromosome 11q23-->q24, a region frequently altered in human cancers. These results suggest that EI24 may play an important role in the p53 tumor suppressor pathway.

Animals↗
PubMed2002

A comparative map of bovine chromosome 25 with human chromosomes 7 and 16.

A comparative genome map is necessary for the implementation of comparative positional candidate gene cloning in cattle. We have developed a medium density comparative gene map of bovine chromosome 25 (BTA25). A radiation hybrid (RH) panel was used to map nine microsatellites and nine genes. Eight of the nine comparative loci were also mapped by FISH. These results were combined with data from published articles to create a comprehensive comparative map of BTA25 with human chromosomes 7 (HSA7) and 16 (HSA16). This map should facilitate the cloning of genes of interest on bovine chromosome 25.

Animals↗
PubMed2002

Assignment of FUT8 to chicken chromosome band 5q1.4 and to human chromosome 14q23.2-->q24.1 by in situ hybridization. Conserved and compared synteny between human and chicken.

The human FUT8 gene is implicated in crucial developmental stages and is overexpressed in some tumors and other malignant diseases. Based on three different experiments we have assigned the FUT8 gene to chromosome bands 14q23.2-->q24.1 and not 14q24.3 as previously shown (Yamaguchi et al., 1999). We found a high degree of identity between human and chicken FUT8 sequences. We mapped the chicken FUT8 gene to chromosome 5q1.4 in an internal rearrangement of a region of conserved synteny described between human 14q and chicken chromosome 5. Based on these findings we propose a new gene position correspondence between chicken and human comparative maps.

Animals↗
PubMed2003

A refined comparative map between porcine chromosome 13 and human chromosome 3.

We report here the localisation of BAIAP1 (13q24), HTR1F (13q45), PTPRG (13q23) and UBE1C (13q24) by fluorescence in situ hybridisation (FISH), and BAIAP1 (Swr2114; 21 cR; LOD = 11.03), GATA2 (Sw2448; 37 cR; LOD = 8.26), IL5RA (Swr2114; 64 cR; LOD = 3.85), LMCD1 (Sw2450; 61 cR; LOD = 4.73), MME (CP; 50 cR; LOD = 7.75), RYK (Swc22; 12 cR; LOD = 18.62) and SGU003 (Sw1876; 6 cR; LOD = 16.99) by radiation hybrid (RH) mapping to porcine chromosome 13 (SSC13). The mapping of these 10 different loci (all mapped to human chromosome 3; HSA3) not only confirms the extended conservation of synteny between HSA3 and SSC13, but also defines more precisely the regions with conserved linkage. The syntenic region of the centromeric part of SSC13 was determined by isolating porcine bacterial artificial chromosome (BAC) clones (842D4 and 1031H1) using primers amplifying porcine microsatellite markers S0219 and S0076 (mapped to this region). Sequence comparison of the BAC end sequences with the human genome sequence showed that the centromeric part of SSC13 is homologous with HSA3p24.

Animals↗
PubMed1981

A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4.

A complex four-break rearrangement between chromosomes 4 and 13 was ascertained in a 10-year-old mentally retarded girl. The rearrangement was inherited from the phenotypically normal mother, who had an inverted insertion of part of the long arm of chromosome 4 into the long arm of 13 and, in addition, a pericentric inversion of the deleted 4. Meiotic crossing-over between the normal and the inverted 4 resulted in a recombinant chromosome 4, which was inherited by the proband, together with the 13/4 insertion. In this way the proband became monosomic for 4q35 leads to qter and trisomic for 4pter leads to 4p15, but she showed only minor physical malformations, as compared with other reports on the trisomy 4p syndrome. The cytogenetic findings are difficult to describe using the ISCN nomenclature.

Chromosome Aberrations↗
PubMed2000

Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.

We report on a 31-year-old mentally retarded woman with minor facial anomalies and a heteromorphic chromosome 9 with tandem duplication of the 9p11-q13 pericentromeric region. To the best of our knowledge, this is the first report of tandem duplication of this region. An identical chromosome 9 morphology was found in the healthy and phenotypically normal sister of the proposita. The usefulness of double-color FISH techniques and the presumed mechanism accounting for the origin of the chromosomal anomaly and for the phenotypic discordance observed between the two sisters are discussed.

Adult↗
PubMedDate not supplied

Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, and immunodeficiency. Special reference to the fragility of chromosome 2 and its oncogenic potential.

Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, has been described at least thrice in unrelated patients in association with combined immunodeficiency. This association has been confirmed by our findings in both immunodeficient and cancer patients. In our opinion, both the fragility and the immunodeficiency are the results of persistent viral infections by certain DNA (i.e.: Herpes-, Papova-) viruses or RNA (retro-) viruses (i.e. HTLV), which are lymphotropic. The immunodeficiency may be due to virus-cell, cell to cell, or virus-virus interactions. According to our findings, centromeric fragility of chromosome 2 appears to have a particular oncogenic potential probably because of its location in proximity to immunoglobulins genes. We suggest that centromeric fragility of chromosomes 1, 2, 9, 16, may be one of the symptoms of an incipient Acquired Immunodeficiency Syndrome (AIDS) which will not necessarily develop fully.

Acquired Immunodeficiency Syndrome↗
PubMed1984

[Duplication of the long arm of chromosome 3 (dup 3q) in a newborn infant whose the father is carrier of pericentric inversion of chromosome 9].

The authors report a case of a partial trisomy for the long arm of chromosome 3. The associated morphotypic anomalies are compared with the 31 cases already reported, and allow to further outline a well recognizable morphotype which has similarities with the Brachmann Cornelia de Lange Syndrome. The chromosomal mechanisms which may result in this unbalanced caryotype dup 3 q are discussed, and among them the possible role of a paternal chromosome 9 pericentric inversion, most commonly termed as a normal variant.

Abnormalities, Multiple↗
PubMed1999

Molecular mapping of chromosome 2 deletions in murine radiation-induced AML localizes a putative tumor suppressor gene to a 1.0 cM region homologous to human chromosome segment 11p11-12.

Radiation-induced acute myeloid leukemias (AMLs) in the mouse are characterized by chromosome 2 deletions. Previous studies showed that a minimal deleted region (mdr) of approximately 6.5 cM is lost from one homologue in chromosome 2-deleted AMLs. An AML tumor suppressor gene is proposed to map within this mdr. In this study, we refine the mdr to a I cM interval between markers D2Mit126 and D2Mit185 by microsatellite analysis of 21 primary radiation-induced F I AMLs. The construction of a partial yeast artificial chromosome (YAC) contig spanning the mdr and the location of six known genes indicated that the 1 cM mdr is homologous to human 11p11-12, a region implicated in some human AMLs. Screening of five cell lines derived from primary radiation-induced AMLs for homozygous loss of microsatellites and genes mapping within the mdr revealed loss of both copies of the hemopoietic tissue-specific transcription factor Sfpi1(PU.1/Spi1) in one cell line. Studies of primary and F1 AMLs failed to implicate Sfpi1 as the AML tumor suppressor gene. YAC contig construction, together with data suggesting that the critical gene flanks Sfpi1, represents significant progress toward identifying an AML tumor suppressor gene.

Animals↗
PubMed1996

Nucleotide sequence analysis of a 40 kb segment on the right arm of yeast chromosome XV reveals 18 open reading frames including a new pyruvate kinase and three homologues to chromosome I genes.

We have determined the nucleotide sequence of a 40 kb fragment from the right arm of chromosome XV of Saccharomyces cerevisiae. Subsequent analysis revealed 18 non-overlapping open reading frames (ORFs) numbered from 06257 to 06357, an ARS, two tRNA genes and a Ty2 with its flanking elements. Ten ORFs have been sequenced previously: TEA1, RPA43, RPA190, SGC1 (also called TYE7) REV1, PUT4, CIN1, MNE and MRE4 (also called MEK1). Among the others, two seem to code for a new pyruvate kinase and for a new ubiquitin-conjugating enzyme; three have interesting homology with genes located on the left arm of chromosome I. This similarity with chromosome I extends to the left of the sequence presented here (Parle et al., submitted to Yeast). The homologous genes on the two chromosomes are placed in the same relative order.

Amino Acid Sequence↗
PubMed2003

Acute lymphoblastic leukemia without the Philadelphia chromosome occurring in chronic myelogenous leukemia with the Philadelphia chromosome.

The blast crisis in chronic myelogenous leukemia (CML) is related to the evolution of a Philadelphia chromosome (Ph)-positive clone. Secondary chromosomal abnormalities accompanied by t(9;22) are found in 70-80% of blast crises. Here we describe a patient with Ph-positive CML, who developed Ph-negative acute lymphoblastic leukemia (ALL). A 52-year-old man was diagnosed with CML with the Ph chromosome in the chronic phase. He achieved a partial cytogenetic response after 4 months of imatinib mesylate therapy. After 8 months, common ALL occurred. At that time his karyotype was normal and the Ph chromosome was not noted.

Benzamides↗
PubMed1993

Identification of a marker chromosome in a rat ascitic tumor by flow cytometry using a modified method for preparing chromosome suspensions.

Preparation of good chromosome suspensions is a crucial step in obtaining good flow karyotypes from different types of cells. Although several methods are in use, not all are suitable for all cell types. Primary cells from murine tissues are specially difficult to flow karyotype. We have modified the existing protocols for preparing chromosome suspensions from the Zajdela ascitic hepatoma (ZAH) cells of rat and have constructed their flow karyograms. Our karyograms show a distinct marker chromosome in these cells, which could not be resolved using other protocols. We have also used this method for preparing chromosomes from the bone marrow cells of the rat and have compared their flow karyograms with the ZAH karyotype. We expect that our protocol will be useful for studying other types of tumor and normal cells.

Animals↗
PubMed1991

c-myc gene in a murine plasmocytoma without visible chromosomal translocations moves to chromosome 12F1 with Pvt-1 and rearranges with IgH enhancer-S mu sequences.

The DCPC 21 plasmocytoma lacks any of the MPC-associated chromosomal translocations. However, the c-myc gene has been transposed to the IgH locus on chromosome 12 by an Ig switch-region-mediated recombination mechanism. DNA sequencing analysis, further, revealed that this recombination is consistent with an insertion of the IgH enhancer (E mu)-S mu sequences, 2341 bp in length, into the c-myc 5'-flanking region, resulting in 5': c-myc 5'-flanking-E mu-S mu-c-myc 5'-flanking-c-myc exon-1: 3' segment. In situ molecular hybridization of DCPC 21 metaphase chromosome spreads using a Pvt-1 probe demonstrated that Pvt-1 has also moved to the F1 sub-band region of chromosome 12 where the IgH genes are located. These results indicate that the c-myc gene has been inserted into the IgH locus together with the Pvt-1, regardless of whether plasmocytoma has cytogenetically identifiable translocations. The possible interaction between c-myc activation and Pvt-1 in the development of MPCs is discussed.

Animals↗
PubMed1995

Chromosomal assignment of the human gene for the cancer-associated retinopathy protein (recoverin) to chromosome 17p13.1.

The gene for the mouse recoverin protein (23 kDa photoreceptor-specific protein, S-modulin, or the Cancer-Associated Retinopathy protein) was recently assigned to mouse chromosome 11, closely linked to trp53. In this paper, the human gene for recoverin was localized to human chromosome 17 by Southern analysis of restriction digests of the DNA from mouse/human somatic cell hybrids. Using a 7 kb subclone of the human recoverin gene, a positive fluorescence in situ hybridization signal was demonstrated near the terminus of the short arm of chromosome 17 at position p13.1. The mapping of recoverin to this region of human chromosome 17, which contains a number of cancer-related loci, suggests a possible mechanism by which cancer-associated retinopathy occurs in humans.

Animals↗
PubMed1994

Sequencing of a 13.2 kb segment next to the left telomere of yeast chromosome XI revealed five open reading frames and recent recombination events with the right arms of chromosomes III and V.

We report the entire sequence of a 13.2 kb segment next to the left telomere of chromosome XI of Saccharomyces cerevisiae. A 1.2 kb fragment near one end is 91% homologous to the right arm of chromosome III and 0.7 kb of that are 77% homologous to the right arm of chromosome V. Five open reading frames are included in the sequenced segment. Two of them are almost identical to the known YCR104W and YCR103C hypothetical proteins of chromosome III. A third one contains a region homologous to the Zn (2)-Cys (6) binuclear cluster pattern of fungal transcriptional activators. The fourth one, part of which is similar to the mammalian putative transporter of mevalonate, has the structure of membrane transporters. The fifth one is similar to yeast ferric reductase.

Amino Acid Sequence↗
PubMed1993

Assignment of the chromogranin A (Chga) locus to homologous regions on mouse chromosome 12 and rat chromosome 6.

Chromogranin A is an acidic protein, stored and released with catecholamines, and is overexpressed in genetic hypertension. In the human genome, its locus has previously been positioned on the long arm of Chromosome 14 in the 14q32 region. As a first step toward evaluating its potential linkage with hereditary hypertension, we determined its chromosomal position in mouse and rat. Chromogranin A was present as a single-copy gene in both mouse and rat. Analysis of the allele distribution in an interspecific mouse backcross by single-strand conformation polymorphism positioned the chromogranin A locus on Chromosome 12, between Igh-C and D12Pas1. Evaluation of a rat/mouse somatic cell hybrid panel indicated that chromogranin A is on rat Chromosome 6. In each case (mouse, rat, and human), chromogranin A is in a conserved region with nearby markers including the immunoglobulin heavy chain locus.

Animals↗