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2.
Metabolism ; 26(3): 225-54, 1977 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-189159

RESUMO

The lipoprotein (LP) patterns were studied in the families of 19 index cases with type-III hyperlipoproteinemia (HLP). Seventy adult first-degree relatives (93% ascertainment) to the 19 probands were analyzed. The diagnosis of HLP type III among the first-degree relatives was based on three criteria, all of which had to be fulfilled to make the diagnosis: (1) presence of a slow-moving band in very-low-density LP (VLDL) on agarose gel electrophoresis migrating in beta or close to beta position; (2) A cholesterol/triglyceride ratio (mg/100 ml: mmoles/liter) in VLDL greater than 29.0; and (3) A "III-index" [cholesterol/triglycerides in VLDL x 10 divided by cholesterol/triglycerides in low-density LP (LDL)] greater than 1.30. When defined according to these criteria there was a marked over-representation of HLP type III among the relatives (27%). There was also an increased frequency of hypertriglyceridemia (28% against expected 15%), mainly because of a high prevalence of HLP type IV (24%). On agarose gel electrophoresis a "late pre-beta" band, probably indicative of an increased amount of intermediary LP particles, was frequently present (47%) among relatives not classified as HLP type III. Type-III patients with hypertriglyceridemia were characterized by a significantly higher body weight than those with normotriglyceridemic type III. However, there was no qualitative difference in the composition of the lipoproteins in normotriglyceridemic and hypertriglyceridemic type-III patients. A genetic analysis of the LP patterns within the families showed several examples of vertical transmission of HLP type III. There was no sex linkage. Six of thirteen analyzed parents showed LP patterns classified as HLP type III. Another two parents were most probably carriers of the gene. Of the siblings to the probands, 23% showed a type-III pattern and another four (7%) showed LP patterns very similar to type III, fulfilling two of three criteria for HLP type III. The data support the concept that HLP type III is inherited as an autosomal dominant gene. It was indicated that HLP type IV with a late pre-beta band in VLDL may represent another expression of the gene for HLP type III. It is suggested that HLP type III may be a pathogenetically heterogenous group of lipid disorders. A separation of type III into two subgroups with low or normal and high LDL cholesterol concentration, respectively, may facilitate the understanding of the inheritance of type III as well as of the pathogenesis behind this LP abnormality.


Assuntos
Hiperlipidemias/genética , Lipoproteínas LDL/sangue , Lipoproteínas VLDL/sangue , Adulto , Idoso , Colesterol/sangue , Feminino , Ligação Genética , Humanos , Hiperlipidemias/diagnóstico , Masculino , Pessoa de Meia-Idade , Linhagem , Triglicerídeos/sangue
3.
Neurosci Lett ; 50(1-3): 121-6, 1984 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-6493618

RESUMO

The activity of nerve growth factor (NGF) in the salivary glands and in the sciatic nerve was compared between normal mice and mice affected by either of three neurological mutations by the use of a biological assay. No evidence was obtained for defects in amount or activity of NGF associated with the sprawling or splotch mutations. A reduction in the NGF content was found in salivary glands and sciatic nerve in homozygous dystonia musculorum mice. It is pointed out that the low amounts of NGF in dtJ/dtJ mice is likely to be a consequence of the general disturbances in development seen in this mutant rather than the specific cause for the neurological disorder.


Assuntos
Fatores de Crescimento Neural/análise , Nervos Periféricos/análise , Glândulas Salivares/análise , Animais , Distonia/genética , Distonia/metabolismo , Feminino , Hibridização Genética , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , Camundongos Mutantes Neurológicos , Fatores de Crescimento Neural/genética , Ratos
4.
Toxicol Lett ; 23(1): 37-42, 1984 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-6485016

RESUMO

A series of recombinant inbred strains called BXD [produced from a cross between C57BL/6J (B6) and DBA/2J (D2)] were given single i.p. doses of 0.6 mg/kg 2,3,7, 8-tetrachlorodibenzofuran (TCDBF) on day 12 of gestation. The uteri were examined in late gestation with respect to resorptions and fetal death, and fetal malformations. The strains of the B6-type with respect to Ah-locus (Nos. 5, 6, 8, 11, 12, 14, 16 and 29) that are Ah-responsive, exhibited cleft palates in 80-100% of all fetuses, while hydronephrosis occurred at a rate of 20-70%. These two types of malformation are well recognized from earlier experiments with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and its structural analogues, including TCDBF. In the strains of D2-type with respect to Ah-locus (Nos. 2, 15, 19, 21, 22, 24, and 31), which are Ah-nonresponsive, no cleft palates occurred. One strain (No. 2) had a few (17%) fetuses with hydronephrosis. The frequency of fetal deaths and resorptions were relatively low, but slightly higher among B6-strains than D2-strains. The results indicate an association between the genes producing malformations by TCDBF and the Ah-locus.


Assuntos
Anormalidades Induzidas por Medicamentos , Benzofuranos/toxicidade , Camundongos Endogâmicos/metabolismo , Anormalidades Induzidas por Medicamentos/genética , Animais , Mapeamento Cromossômico , Fissura Palatina/induzido quimicamente , Feminino , Reabsorção do Feto/induzido quimicamente , Hidronefrose/induzido quimicamente , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Camundongos Endogâmicos/genética , Dibenzodioxinas Policloradas/toxicidade , Gravidez
5.
Poult Sci ; 68(10): 1313-8, 1989 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-2555801

RESUMO

Differences in electrophoretic mobilities of two chicken liver, kidney, and spleen enzymes have been demonstrated. A peptidase cleaving the dipeptide L-leucyl-alanine was found to be under the control of a single locus, Pep-1, in crosses between two breeds of chicken, White Leghorn (WL) and Rhode Island Red (RIR). Three alleles, a, b, and c were segregating in the WL breed but only two of these, a and c, seemed to be present in the RIR stock. The other enzyme investigated here was pyrophosphatase, and was shown to be under the control of one locus, Pyp, with two alleles, a and b. The two alleles had similar frequencies in the RIR breed, whereas in the WL breed, the a allele was more frequent.


Assuntos
Galinhas/genética , Variação Genética , Isoenzimas/genética , Peptídeo Hidrolases/genética , Pirofosfatases/genética , Alelos , Animais , Eletroforese em Gel de Amido , Feminino , Isoenzimas/análise , Rim/enzimologia , Fígado/enzimologia , Masculino , Peptídeo Hidrolases/análise , Fenótipo , Pirofosfatases/análise , Baço/enzimologia
8.
Biochem Genet ; 25(7-8): 603-10, 1987 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-3447593

RESUMO

A gene (Bmn) with a major effect on beta-mannosidase activity in kidney and liver of the house mouse was revealed by assay with the synthetic substrate p-nitrophenyl-beta-D-mannoside. Activity is low in DBA/2J and CSB mice and high in C57BL/6J mice. By the use of the BXD series of recombinant inbred strains and by crosses between C57BL and CSB, it was possible to map the gene to the distal part of chromosome 3 by demonstration of linkage to a gene for cadmium resistance, cdm, as well as to the Adh-3 locus.


Assuntos
Mapeamento Cromossômico , Manosidases/genética , Álcool Desidrogenase/genética , Animais , Cádmio/farmacologia , Feminino , Ligação Genética , Rim/enzimologia , Fígado/enzimologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Camundongos Endogâmicos , Fatores Sexuais , beta-Manosidase
9.
Clin Genet ; 16(2): 72-81, 1979 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-477022

RESUMO

Conservation of genetic linkage over long periods of time is exemplifted. Comparisons are made between chromosomal regions in different species as well as within two species, man and the house mouse. Homologous regions are defined and the phenomenon of differential silencing of genes is described. The importance of conservation of particular sequences of genes is discussed in relation to medical genetics, animal breeding, evolutionary theory and genetic regulation.


Assuntos
Evolução Biológica , Mapeamento Cromossômico , Genes , Animais , Diferenciação Celular , Ligação Genética , Humanos , Camundongos , Especificidade da Espécie
10.
Genomics ; 16(1): 1-19, 1993 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-8486346

RESUMO

Gene constellations on several human chromosomes are interpreted as indications of large regional duplications that took place during evolution of the vertebrate genome. Four groups of paralogous chromosomal regions in man and the house mouse are suggested and are believed to be conserved remnants of the two or three rounds of tetraploidization that are likely to have occurred during evolution of the vertebrates. The phenomenon of differential silencing of genes is described. The importance of conservation of linkage of particular genes is discussed in relation to genetic regulation and cell differentiation.


Assuntos
Evolução Biológica , Família Multigênica , Animais , Diferenciação Celular/genética , Cromossomos , Cromossomos Humanos , Ligação Genética , Genoma , Genoma Humano , Humanos , Camundongos , Poliploidia , Especificidade da Espécie
11.
Semin Cell Dev Biol ; 10(5): 523-30, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10597636

RESUMO

Major increases in complexity during animal evolution occurred at the transition from a unicellular protozoan to a multicellular metazoan, the evolution of Bilateria from diploblasts (possibly the Cambrian explosion) and during early vertebrate evolution. A role for gene duplication in the third event has been widely discussed. Here I examine the possible role of gene duplications and domain shuffling in the first two events. There is evidence for a wave of gene duplications and shuffling which may have paved the way for multicellularity; there are also examples of gene duplications that may have facilitated the transition from diploblasts to Bilateria.


Assuntos
Evolução Molecular , Duplicação Gênica , Animais , Cordados não Vertebrados/genética , Colágeno/genética , Genoma , Proteínas de Homeodomínio/genética , Filogenia , Receptores Citoplasmáticos e Nucleares/genética
12.
Biochem Genet ; 15(1-2): 75-85, 1977 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-849254

RESUMO

Activities of three lysosomal glycosidases, beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase, have been shown to differ in bf/bf and bf/+ mice. Thus bf/bf mice usually have much higher activities of these enzymes in their kidney cells than bf/+ animals. There seem, however, to be some exceptions to this general pattern, especially for galactosidase of females from the C57BL/6J strain. A likely interpretation of the difference is that the bf locus has pleiotropic effects. An alternative explanation, less likely, is that a gene closely linked to bf is involved. There is also a differential response to dihydrotestosterone in different groups of mice reflected in activity changes of the three enzymes.


Assuntos
Galactosidases/metabolismo , Genes , Glucuronidase/metabolismo , Cor de Cabelo , Hexosaminidases/metabolismo , Rim/enzimologia , Animais , Feminino , Heterozigoto , Homozigoto , Lisossomos/enzimologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA
13.
J Hered ; 66(3): 144-6, 1975.
Artigo em Inglês | MEDLINE | ID: mdl-51866

RESUMO

A genetic variation in the number of pituitary PAS-purple cells in the house mouse is described. C57BL/K1 mice have low and DBA/2/K1 mice have high numbers of these cells in both peripheral and central parts of the anterior pituitary gland. The variation may be due to a single locus with incomplete dominance for the low-number allele. There is no correlation with glucuronidase or galactosidase activities and no association with the b and d loci.


Assuntos
Variação Genética , Hipófise/citologia , Animais , Contagem de Células , Mapeamento Cromossômico , Cruzamentos Genéticos , Galactosidases/análise , Glucuronidase/análise , Rim/enzimologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Adeno-Hipófise/citologia , Coloração e Rotulagem
14.
Experientia ; 45(11-12): 1133-5, 1989 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-2513223

RESUMO

The anaesthetic responses of homozygous mutant mice were compared with those of their normal heterozygous littermates. The two recessive mutations studied were beige (bg) and reduced pigmentation (rp). Homozygosity for either significantly increased the sleeping time of both sexes after treatment with pentobarbital, tribromoethanol or the steroid anaesthetic alphaxalone.


Assuntos
Anestesia , Anestésicos , Lisossomos/fisiologia , Mutação , Animais , Etanol , Feminino , Homozigoto , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Mutantes , Pentobarbital , Pigmentação/genética , Pregnanodionas , Fatores de Tempo
15.
Biochem Genet ; 19(5-6): 457-64, 1981 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-6794559

RESUMO

A gene locus is described controlling liver activities in the house mouse of three glycosidases, i.e., beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase. An allele conferring low activity is present in the inbred strain LIS/A, and an allele for high activity is present in A/BrAf mice. The three enzyme activities are correlated with each other. The possible linkage between this gene and the Bgs locus on chromosome 9 is discussed.


Assuntos
Acetilglucosaminidase/genética , Galactosidases/genética , Genes , Glucuronidase/genética , Hexosaminidases/genética , Fígado/enzimologia , beta-Galactosidase/genética , Alelos , Animais , Cruzamentos Genéticos , Variação Genética , Masculino , Camundongos , Camundongos Endogâmicos , Especificidade da Espécie
16.
NIDA Res Monogr ; 75: 603-6, 1986.
Artigo em Inglês | MEDLINE | ID: mdl-3123981

RESUMO

Morphine UDP-glucuronyltransferase activity was demonstrated in the brain of mice from recombinant inbred strains of the BXD series. The formation rate of morphine-3-glucuronide was about 4 fold higher in the progenitor DBA as compared to the C57BL strain.


Assuntos
Encéfalo/enzimologia , Glucuronosiltransferase/metabolismo , Microssomos/enzimologia , Morfina/metabolismo , Animais , Cromatografia Líquida de Alta Pressão , Cruzamentos Genéticos , Glucuronatos/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Camundongos Endogâmicos , Recombinação Genética
17.
J Neurosci ; 18(21): 8700-11, 1998 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-9786977

RESUMO

We have isolated a neurotrophin from the lamprey that permitted us to perform a phylogenetic analysis of the neurotrophin gene family that dates back more than 460 million years to the early vertebrate ancestors. The results show that the neurotrophin gene family was originally formed by two subsequent duplications. The duplication that formed nerve growth factor, neurotrophin-3, brain-derived neurotrophic factor, and neurotrophin-4/5 occurred after the split of lampreys but before the split of cartilaginous fish from the main vertebrate lineage. Compilation of chromosomal gene maps around the neurotrophins shows that they are located in paralogous regions, suggesting that the genes were formed at major duplication events possibly by complete genome doubling. Analysis of two isolated Trk receptor sequences shows similar results as for the lamprey neurotrophin. Multiple neurotrophin and Trk genes, including neurotrophin-6 and -7, have been found in bony fish, and we suggest that the extra genes were formed by an additional duplication in the bony fish lineage. Analysis of lamprey Trk mRNA expression in the adult brain shows that the genes are expressed in all regions analyzed so far. Together, the results suggest that the duplications of ancestral neurotrophin and Trk genes at an early vertebrate stage have permitted evolution to bring about differential neurotrophin and Trk expression, thereby allowing the formation of specific functions in selective neuronal populations.


Assuntos
Lampreias/genética , Fatores de Crescimento Neural/genética , Receptores Proteína Tirosina Quinases/genética , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Orelha Interna/metabolismo , Evolução Molecular , Humanos , Hibridização In Situ , Dados de Sequência Molecular , Fatores de Crescimento Neural/metabolismo , Filogenia , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/metabolismo , Receptor do Fator Neutrófico Ciliar , Receptor trkA , Receptor trkC , Receptores de Fator de Crescimento Neural/genética , Homologia de Sequência de Aminoácidos , Vertebrados/genética
18.
Biochem Genet ; 13(9-10): 733-42, 1975 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-988

RESUMO

One inbred mouse strain, C57BL/Kl, has high galactosidase activities in all tissues while another strain, DBA/2/Kl, has low activities determined by the Bgs locus. Beta-Galactosidase from these two strains was partly purified by a five-step procedure: acidification, ammonium sulfate precipitation, gel filtration at two pHs, and isoelectric focusing. No qualitative differences were found between the enzyme preparations from the two strains. They had identical heat inactivation curves, pH optima, molecular weight, and isoelectric points, and the Km values were very similar. It thus seems that this genetic difference in enzyme activity probably cannot be explained by a variation of the galactosidase-specific activity but rather reflects a difference in number of enzyme molecules. Eight different isoenzymes were separated from liver, kidney, and spleen. Each isoenzyme has a different electrophoretic mobility and there is a stepwise increase in molecular weight from 143,000 to 380,000 beginning with the protein having the lowest isoelectric point. A likely interpretation is that the isoenzymes bind a smaller polypeptide in varying numbers in addition to the enzymatic polypeptide per se.


Assuntos
Galactosidases/metabolismo , Animais , Galactosidases/isolamento & purificação , Temperatura Alta , Concentração de Íons de Hidrogênio , Focalização Isoelétrica , Isoenzimas/metabolismo , Rim/enzimologia , Cinética , Fígado/enzimologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Peso Molecular , Baço/enzimologia
19.
Scand J Immunol ; 15(3): 305-10, 1982 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7089489

RESUMO

The impact of five pigment mutations in the mouse on natural killer (NK) activity was examined in inbred strains congenic for the respective mutation. Whereas the nature of pigmentation disorder was similar in the five mutant strains (beige, pallid, reduced pigmentation, pale ear, and sepia), all mutations except sepia also led to a significant change in lysosomal enzyme activities in the kidney. A significant reduction in NK activity was observed in the four strains with lysosomal impact, whereas homozygous sepia mice displayed normal NK activity. The pigment mutations analysed are located on different chromosomes and fail to cross-interact negatively with each other in the heterozygous mice. This would indicate that pigment mutations with a parallel impact on lysosomal enzyme activities probably always result in a reduction in natural killer cell activity.


Assuntos
Células Matadoras Naturais/imunologia , Lisossomos/enzimologia , Mutação , Transtornos da Pigmentação/imunologia , Animais , Tolerância Imunológica , Imunidade Inata , Técnicas In Vitro , Rim/enzimologia , Fígado/enzimologia , Camundongos , Transtornos da Pigmentação/enzimologia , Transtornos da Pigmentação/genética , Baço/enzimologia
20.
J Virol ; 58(3): 967-9, 1986 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2422403

RESUMO

Genomic Southern blots of mouse-hamster somatic cell hybrids were analyzed with a probe prepared from a cDNA encoding murine Mx protein, the product of the interferon-regulated influenza virus resistance allele Mx+. Results of this analysis indicate that the Mx gene is located on mouse chromosome 16. In appropriate backcross mice, no linkage was observed between Mx and md, a marker previously mapped close to the centromere of chromosome 16, suggesting a more distal localization of Mx.


Assuntos
Mapeamento Cromossômico , Genes , Interferons/farmacologia , Infecções por Orthomyxoviridae/genética , Alelos , Animais , Cricetinae , Feminino , Masculino , Camundongos , Camundongos Endogâmicos BALB C
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