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1.
Cytogenet Genome Res ; 98(2-3): 177-83, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12698000

RESUMO

Sequence tagged sites generated for 60 NotI clones (NotI-STSs) from human chromosome 3-specific NotI-jumping and NotI-linking libraries were physically located using PCR screening of a radiation hybrid (RH) GeneBridge4 panel. The NotI map of chromosome 3 was generated using these RH-mapping data and those obtained earlier by FISH and sequencing of the corresponding NotI clones. The sequences of the NotI clones showed significant homologies with known genes and/or ESTs for 58 NotI-STSs (97%). These 58 NotI clones displayed 91-100% identity to 54 genes and 23 cDNA/EST clones. One known and two hypothetical protein-coding genes were localized for the first time and nine cDNA clones (unknown genes) were also carefully mapped only in this work. Three newly mapped genes are histone gene H1X (NR1-BK20C) and genes for hypothetical proteins THC1032178 and THC1024604 (NL1-243).


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 3 , Desoxirribonucleases de Sítio Específico do Tipo II , Mapeamento de Híbridos Radioativos , Clonagem Molecular , Humanos , Sitios de Sequências Rotuladas
2.
Gene ; 268(1-2): 115-22, 2001 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-11368907

RESUMO

A novel human potassium channel gene was identified and isolated. The maximal open reading frame encodes a protein of 456 amino acids. The predicted product exhibits 91% amino acid identity to the murine voltage-gated potassium channel protein Kv1.7 (Kcna7), which plays an important role in the repolarization of cell membranes. Based on the high similarity, the human gene has been classified as the ortholog of the mouse Kcna7 and given the name Kv1.7 (KCNA7). A structural prediction identified a pore region characteristic of potassium channels and six membrane-spanning domains. Northern expression analysis revealed the gene is expressed preferentially in skeletal muscle, heart and kidney. However, it is expressed at lower level in other tissues, including liver. A single mRNA isoform was observed, with a size of approximately 4.5 kb. Using fluorescence in situ hybridization, the gene was mapped to chromosomal band 19q13.4 (269.13 cR(3000)). A genomic sequence was identified in the database from this region, and the KCNA7 gene structure determined. Computational analysis of the genomic sequence reveals the location of a putative promoter and a likely muscle-specific regulatory region. Initial comparison to the published murine Kcna7 cDNA suggested a different N-terminal sequence for the human protein, however, further analysis suggests that the original mouse sequence contained an error or an unusual polymorphism.


Assuntos
Cromossomos Humanos Par 19 , Canais de Potássio de Abertura Dependente da Tensão da Membrana , Canais de Potássio/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Clonagem Molecular , Regulação da Expressão Gênica , Humanos , Rim/fisiologia , Fígado/fisiologia , Camundongos , Dados de Sequência Molecular , Músculo Esquelético/fisiologia , Canais de Potássio/metabolismo , Regiões Promotoras Genéticas , Estrutura Terciária de Proteína , Homologia de Sequência de Aminoácidos , Superfamília Shaker de Canais de Potássio
9.
Gene ; 239(2): 259-71, 1999 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-10548727

RESUMO

We have partially sequenced more than 1000 NotI linking clones isolated from human chromosome 3-specific libraries. Of these clones, 152 were unique chromosome 3-specific clones. The clones were precisely mapped using a combination of fluorescence in situ hybridization (FISH) and hybridization to somatic cell or radiation hybrids. Two- and three-color FISH was used to order the clones that mapped to the same chromosomal region, and in some cases, chromosome jumping was used to resolve ambiguous mapping. When this NotI restriction map was compared with the yeast artificial chromosome (YAC) based chromosome 3 map, significant differences in several chromosome 3 regions were observed. A search of the EMBL nucleotide database with these sequences revealed homologies (90-100%) to more than 100 different genes or expressed sequence tags (ESTs). Many of these homologies were used to map new genes to chromosome 3. These results suggest that sequencing NotI linking clones, and sequencing CpG islands in general, may complement the EST project and aid in the discovery of all human genes by sequencing random cDNAs. This method may also yield information that cannot be obtained by the EST project alone; namely, the identification of the 5' ends of genes, including potential promoter/enhancer regions and other regulatory sequences


Assuntos
Cromossomos Humanos Par 3/genética , DNA/genética , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Biblioteca Gênica , Animais , Linhagem Celular , Mapeamento Cromossômico , DNA/química , DNA/metabolismo , Bases de Dados Factuais , Etiquetas de Sequências Expressas , Humanos , Células Híbridas , Hibridização in Situ Fluorescente , Camundongos , Alinhamento de Sequência , Análise de Sequência de DNA
10.
FEBS Lett ; 451(3): 289-94, 1999 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-10371207

RESUMO

As a step towards developing a new functional test for the identification of tumor suppressor genes, human wild type and mutant RB genes were expressed in the mouse A9 fibrosarcoma cell line under the transcriptional regulation of the tetracycline repressor using two new vectors: pLNCtTA and pETI. Following passage of the transfectants in immunodeficient SCID mice, the wild type RB gene was deleted or functionally inactivated already after the first passage in all 20 tumors tested. In contrast, a non-functional mutant RB gene was maintained in all 10 tumors studied. These results suggest that tests for the identification of tumor suppressor genes may be based on their functional inactivation in vivo, rather than on growth suppression.


Assuntos
Fibrossarcoma/genética , Regulação Neoplásica da Expressão Gênica , Genes do Retinoblastoma , Genes Supressores de Tumor , Animais , Vetores Genéticos , Humanos , Camundongos , Camundongos SCID , Transplante de Neoplasias , Células Tumorais Cultivadas
11.
Eur J Hum Genet ; 5(2): 110-6, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9195163

RESUMO

Twenty-three unique NotI-linking clones, mainly isolated from the NRL1 library, were mapped and ordered by fluorescence in situ hybridization to human chromosome 3. All these clones were partially sequenced around the NotI sites and thus represent sequence-tagged sites. The EMBL nucleotide database was then searched with sequences from the NotI-linking clones using the FASTA program. This search revealed that the NRL-090 clone (at 3q24) contains the gene encoding human guanosine 5'-monophosphate synthetase (GMPS-PEN). To our knowledge, this is the first localization of this gene. Clone NL1-320 (at 3p21.3) contains a gene encoding arginine tRNA (97.3% identity in 73 bp), while clones NRL-063, NRL-097 and NRL-143 contain expressed sequences with unknown functions. Other clones displayed 60-85% similarities to cDNAs, CpG islands and other genes.


Assuntos
Carbono-Nitrogênio Ligases , Cromossomos Humanos Par 3/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Ligases/genética , Sequência de Bases , Mapeamento Cromossômico , Clonagem Molecular , Sequência Conservada , Ilhas de CpG , Expressão Gênica , Humanos , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Mapeamento por Restrição
13.
FEBS Lett ; 419(2-3): 181-5, 1997 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-9428630

RESUMO

By applying the 'recognition mask' strategy to 300 mammalian sequences containing NotI sites we demonstrated that 5' ends of genes are highly enriched in NotI sites. A NotI linking clone NL2-252 (D3S1678) containing transferrin receptor (TFRC) gene was used as an initial point for chromosomal jumping. One of the jumping clones, J21-045 traverses 210 kbp and links NL2-252 to NL26 (D3S1632), a NotI linking clone containing highly polymorphic sequences. The TFRC gene was mapped to 3q29, close to the telomeric marker D3S2344, by linkage analysis, a panel of hybrid cell lines, GeneBridge 4 panel and FISH. Clone NLM-007 (D3S4302) was found to contain ras-homologous gene RAB7. By FISH and a panel of hybrid cell lines this gene was mapped to 3q21. This region is of particular interest due to frequent rearrangements in different types of leukemia. Clone L2-081 (D3S4283) containing new member of ubiquitin-specific proteases (HAUSP gene) was localized in 3p21 inspiring further investigation of involvement of this gene in development of lung and renal carcinomas.


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 3 , Endopeptidases/genética , Proteínas de Ligação ao GTP/genética , Biblioteca Gênica , Genoma Humano , Leucemia/genética , Neoplasias/genética , Receptores da Transferrina/genética , Proteínas rab de Ligação ao GTP , Clonagem Molecular , Rearranjo Gênico , Humanos , Dados de Sequência Molecular , Ubiquitina Tiolesterase , Peptidase 7 Específica de Ubiquitina , proteínas de unión al GTP Rab7
14.
Chromosome Res ; 4(6): 443-7, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8889243

RESUMO

Forty new NotI linking clones representing sequence tagged sites (STSs) were mapped by fluorescence in situ hybridization (FISH) to different regions of human chromosome 3 (HSA3). Clone NL1-245, containing human aminoacylase 1, was localized to 3p21.2-p21.1. Our previous localization of the CLC-2 chloride channel protein gene was refined to 3q27. Clone NL2-316 most likely contains a translocon-associated protein gamma-subunit gene and was mapped to 3q23-q24. To our knowledge, this is the first time this gene has been mapped. One NotI linking clone (NL1-229) probably contains a new protein phosphatase gene. This clone was mapped to 3p25. Five NotI linking clones probably contain human expressed sequence tags (ESTs), as they possess sequences with a high level of identity (> 90%) to cDNA clones. Other clones show 56-85% homology to known mammalian and human genes with various functions, including oncogenes and tumour-suppressor genes. These clones might represent new genes.


Assuntos
Cromossomos Humanos Par 3/química , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Sitios de Sequências Rotuladas , Animais , Sequência de Bases , Mapeamento Cromossômico/métodos , Clonagem Molecular , DNA Complementar/química , Humanos , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Coelhos , Ratos
15.
Mamm Genome ; 7(8): 593-7, 1996 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8678980

RESUMO

A repetitive DNA sequence, MS2, was isolated from EcoRI-digested genomic DNA of the vole, Microtus subarvalis. The fragment was cloned and sequenced. Sequence analysis of this 1194-bp fragment revealed a 156-bp region demonstrating a 55% homology with the mouse B1 repeat. The remaining MS2 sequence shows no significant homology with other known GenBank sequences. The results of in situ hybridization of MS2 on vole metaphase chromosomes indicate the fragment is confined to heterochromatin blocks of the sex chromosomes in all but one species (M. arvalis). Distribution of MS2 sequences provides evidence for heterogeneity of the giant heterochromatin blocks of the XY Chromosomes (Chrs) in voles, for the unique cluster-like localization of MS2 within these blocks.


Assuntos
Arvicolinae/genética , Mapeamento Cromossômico , Sequências Repetitivas de Ácido Nucleico , Sequência de Aminoácidos , Animais , Sequência de Bases , Bandeamento Cromossômico , Clonagem Molecular , Sequência Consenso , Desoxirribonuclease EcoRI , Feminino , Heterocromatina , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Camundongos , Dados de Sequência Molecular , Fases de Leitura Aberta , Mapeamento por Restrição , Homologia de Sequência do Ácido Nucleico , Cromossomo X , Cromossomo Y
18.
Genetika ; 30(4): 539-41, 1994 Apr.
Artigo em Russo | MEDLINE | ID: mdl-8045402

RESUMO

Cytogenetic studies of 150 cell samples were performed. The fetus karyotype was established in 121 cases. Efficiency of the analysis differed significantly, depending on methods of cell cultivation and preparation of chromosome plates: for the in situ method it was 50%; for the trypsin method, 82%; and for the pipette method, 99%. Analysis of 63 samples demonstrated that when the pipette method is used, the results are available as early as within the first week of cultivation; this method is reliable for revealing karyotypic mosaicism in individual cell colonies, can be used successfully from the 16th to the 26th week of pregnancy, and provides a high level of G-staining in prometaphase chromosomes. Comparison of the three methods of prenatal genetics provides unambiguous evidence in favor of the pipette method.


Assuntos
Âmnio/citologia , Aberrações Cromossômicas/diagnóstico , Diagnóstico Pré-Natal , Células Cultivadas , Transtornos Cromossômicos , Feminino , Humanos , Cariotipagem , Mosaicismo , Gravidez
19.
Genetika ; 30(1): 66-71, 1994 Jan.
Artigo em Russo | MEDLINE | ID: mdl-8188049

RESUMO

The use of "pipette" method ensures rapid preparation of standardized whole metaphase spreads. Experiments with human, murine, Chinese hamster, American mink, green African monkey, dog, and vole cells demonstrated that G-banded whole metaphase spreads can be obtained in less than two hours after the beginning of work with cell or tissue culture. Due to that, it became possible to start karyotyping of animal tissue explants, as well as fetal cells present in human amniotic fluid, on day 3 to 4 after their receiving.


Assuntos
Cariotipagem , Mamíferos/genética , Animais , Células Cultivadas , Técnicas de Cultura , Humanos , Hibridização Genética , Metáfase/genética , Fatores de Tempo
20.
Genetika ; 23(1): 157-70, 1987 Jan.
Artigo em Russo | MEDLINE | ID: mdl-3817466

RESUMO

The influence of some t-haplotypes on the phenotypic manifestation of fused and kinky genes located on chromosome 17 of the house mouse was studied. It was shown that t12-haplotype decreases the penetrance of these genes to 59-70%. The effect was observed when the Fu gene (or Ki) is transmitted from the females heterozygous for t12-haplotype. This haplotype only affects manifestation of the Fu and Ki genes in the F1.


Assuntos
Regulação da Expressão Gênica , Genes , Animais , Feminino , Genótipo , Masculino , Camundongos , Camundongos Mutantes , Fenótipo
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