RESUMO
A panel of 22 hybrids was tested for the presence of the gene coding for human cysteine dioxygenase (CDO) by using human specific oligonucleotide primers in the polymerase chain reaction. Detection of human CDO completely correlated with the presence of human chromosome 5. A human total genome cosmid library was screened with a PCR product from the coding region of human CDO cDNA and the two positive clones identified were used in fluorescent in situ hybridisation (FISH) analysis on metaphase chromosome spreads. Fluorescent signals were seen on chromosome 5q22-23. Interspecific backcross mapping in the mouse indicated that Cdo, the mouse homologue of CDO, is situated in the central region of mouse chromosome 18 which shares a region of homology with human chromosome 5.
Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 5 , Citosol/enzimologia , Dioxigenases , Fígado/enzimologia , Oxigenases/genética , Animais , Sequência de Bases , Cruzamentos Genéticos , Cisteína Dioxigenase , Primers do DNA , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , Reação em Cadeia da PolimeraseRESUMO
Mutations in paired-box-containing (Pax) genes have recently been found to be the primary lesions underlying human genetic disorders such as Waardenburg's Syndrome type 1 and mouse developmental mutants such as undulated (un), splotch (Sp), and small eye (Sey). In addition, PAX-6 is a strong candidate gene for aniridia in man. Eight independent Pax genes have been isolated in the mouse. All eight map to distinct regions of the mouse genome; they do not appear to be clustered in the same way as some groups of homeobox-containing genes. We have now mapped the human homologs of all eight of these genes; PAX genes are found on human Chromosomes (Chr) 1, 2, 7, 9, 10, 11, and 20.
Assuntos
Cromossomos Humanos , Proteínas de Ligação a DNA/genética , Animais , Sequência de Bases , Mapeamento Cromossômico , DNA de Cadeia Simples , Humanos , Células Híbridas , Camundongos , Dados de Sequência MolecularRESUMO
The mouse genes for cytosolic phosphoenolpyruvate carboxykinase-1 (Pck-1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (Acra-4) both map to distal chromosome 2 (Siracusa et al. 1989; Bessis et al. 1990). We have utilized Southern blot analysis on human/rodent somatic cell hybrids to map the human homologues of both of these genes, PCK1 and CHRNA4, to human chromosome 20.
Assuntos
Cromossomos Humanos Par 20 , Fosfoenolpiruvato Carboxiquinase (GTP)/genética , Receptores Nicotínicos/genética , Animais , Southern Blotting , Mapeamento Cromossômico , Cricetinae , Humanos , Células Híbridas/ultraestrutura , Camundongos/genética , Ratos , Especificidade da EspécieRESUMO
The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to the several members on chromosome 1 by transposition, partial duplication, and amplification. Several restriction fragment length polymorphisms have been discovered at the DNF15S1 locus and these have been assigned to the different subfamilies of the repeat at this locus. The existence of these RFLPs, and the nonallelic restriction site variation also found in this sequence family, suggests that transposition and amplification occurred as discrete events. We sequenced across the ancient junction between chromosomes 1 and 3 and noted features which might explain the mechanics of the transposition and amplification events.
Assuntos
Cromossomos Humanos Par 1 , Cromossomos Humanos Par 3 , Amplificação de Genes , Recombinação Genética , Sequências Repetitivas de Ácido Nucleico , Sequência de Bases , Densitometria , Variação Genética , Humanos , Dados de Sequência Molecular , Família Multigênica , Conformação de Ácido Nucleico , Hibridização de Ácido Nucleico , Polimorfismo de Fragmento de Restrição , Mapeamento por Restrição , Homologia de Sequência do Ácido NucleicoRESUMO
An investigation of a range of tissue homogenates by various electrophoretic methods, followed by staining for specific enzyme activity, has revealed a series of isozymes of human rhodanese. Polyacrylamide gel isoelectric focusing provided the most data and rhodanese activity was found in all of the tissues examined. The simplest isozyme pattern was found in red cell lysates; liver homogenates generated the most complex pattern which included the 'red cell' forms together with a set of more basic 'tissue' isozymes. Variation in isozyme patterns thought to be attributable to storage changes affecting reactive sulphydryl residues was observed in 'red cell' rhodanese but no genetic variants of either 'red cell' or 'tissue' rhodanese were encountered in a study of material from the European population. We conclude that 'red cell' and 'tissue' rhodanese are determined by separate genes but more than one locus may be concerned with the synthesis of the heterogeneous 'tissue' isozymes.
