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2.
J Invest Dermatol ; 120(3): 351-5, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12603845

RESUMO

Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients.


Assuntos
Antígenos Ly/genética , Haplótipos , Ceratodermia Palmar e Plantar/genética , Mutação , Ativador de Plasminogênio Tipo Uroquinase/genética , Idoso , Sequência de Bases/genética , Sequência Conservada/genética , Cisteína , Feminino , Efeito Fundador , Heterozigoto , Homozigoto , Humanos , Lactente , Recém-Nascido , Ceratodermia Palmar e Plantar/patologia , Masculino , Dados de Sequência Molecular , Mutação/genética , Linhagem , Sinais Direcionadores de Proteínas , Tirosina
3.
Arch Dermatol ; 148(10): 1191-5, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22801880

RESUMO

BACKGROUND: Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. OBSERVATIONS: We report genotypic and phenotypic data from a series of 9 patients who were collodion babies and developed BSI or SICI owing to mutations in the transglutaminase-1 gene (TGM1), including 3 previously unreported missense mutations. All of our patients with BSI or SICI carried at least 1 specific missense mutation in TGM1 concerning an arginine at position 307 or 315. In 2 patients, the disease evolved (BSI to SICI or BSI to autosomal recessive congenital ichthyosis). The remaining 7 patients exhibited a stable BSI phenotype after shedding of the collodion membrane. CONCLUSIONS: This study highlights the possibility of variable evolution of the phenotype of patients with identical mutations in the same gene. Combined with data from the literature, these findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a BSI and/or an SICI phenotype. This phenotypic variability also depends on other genetic and external factors.


Assuntos
Eritrodermia Ictiosiforme Congênita/genética , Fenótipo , Transglutaminases/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Adulto Jovem
4.
J Mol Biol ; 394(4): 634-43, 2009 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-19765591

RESUMO

Antecedents of Escherichia coli B have been traced through publications, inferences, and personal communication to a strain from the Institut Pasteur in Paris used by d'Herelle in his studies of bacteriophages as early as 1918 (a strain not in the current collection). This strain appears to have passed from d'Herelle to Bordet in 1920, and from Bordet to at least three other laboratories by 1925. The strain that Gratia received from Bordet was apparently passed to Bronfenbrenner by 1924 and from him to Luria around 1941. Delbrück and Luria published the first paper calling this strain B in 1942. Its choice as the common host for phages T1-T7 by the phage group that developed around Delbrück, Luria, and Hershey in the 1940s led to widespread use of B along with E. coli K-12, chosen about the same time for biochemical and genetic studies by Tatum and Lederberg. Not all currently available strains related to B are descended from the B of Delbrück and Luria; at least three strains with somewhat different characteristics were derived independently by Hershey directly from the Bronfenbrenner strain, and a strain that appears to have passed from Bordet to Wollman is in the current Collection of the Institut Pasteur. The succession of manipulations and strains that led from the B of Delbrück and Luria to REL606 and BL21(DE3) is given, established in part through evidence from their recently determined complete genome sequences.


Assuntos
Bacteriologia/história , Escherichia coli/genética , Biologia Molecular/história , Escherichia coli/isolamento & purificação , História do Século XX , História do Século XXI
5.
J Invest Dermatol ; 129(7): 1650-5, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19194475

RESUMO

Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs. Autosomal-dominant forms are relatively mild, and may be caused by mutations in the elastin gene, whereas the more severe recessive forms have been associated with mutations in the fibulin 4 and fibulin 5 genes, as well as in a vesicular ATPase subunit. We describe here a previously unreported autosomal-recessive form of CL caused by homozygous recessive mutations in exon 12 of the elastin gene (p.P211S) in three patients from two related consanguineous Syrian families. Furthermore, we found that the presence of a polymorphism in the fibulin 5 gene in one of the patients seems to modify the phenotype, producing more severe symptoms. This polymorphism (p.L301M) was associated with mild symptoms in the mother of the patient, who was heterozygous for both the elastin and fibulin 5 mutations. To our knowledge, autosomal-recessive CL owing to homozygous mutations in the elastin gene has not been reported previously.


Assuntos
Cútis Laxa/genética , Elastina/genética , Proteínas da Matriz Extracelular/genética , Índice de Gravidade de Doença , Criança , Pré-Escolar , Cútis Laxa/patologia , Éxons/genética , Saúde da Família , Feminino , Genes Recessivos , Glicosilação , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Fenótipo , Polimorfismo Genético , Sialoglicoproteínas/sangue , Síria , Transferrina/análogos & derivados
6.
Nature ; 421(6923): 601-7, 2003 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-12508121

RESUMO

Chromosome 14 is one of five acrocentric chromosomes in the human genome. These chromosomes are characterized by a heterochromatic short arm that contains essentially ribosomal RNA genes, and a euchromatic long arm in which most, if not all, of the protein-coding genes are located. The finished sequence of human chromosome 14 comprises 87,410,661 base pairs, representing 100% of its euchromatic portion, in a single continuous segment covering the entire long arm with no gaps. Two loci of crucial importance for the immune system, as well as more than 60 disease genes, have been localized so far on chromosome 14. We identified 1,050 genes and gene fragments, and 393 pseudogenes. On the basis of comparisons with other vertebrate genomes, we estimate that more than 96% of the chromosome 14 genes have been annotated. From an analysis of the CpG island occurrences, we estimate that 70% of these annotated genes are complete at their 5' end.


Assuntos
Cromossomos Humanos Par 14/genética , Mapeamento Físico do Cromossomo , Análise de Sequência de DNA , Regiões 5' não Traduzidas/genética , Animais , Composição de Bases , Cromossomos Artificiais/genética , Ilhas de CpG/genética , DNA Mitocondrial/genética , DNA Ribossômico/genética , Genes/genética , Genômica , Humanos , Imunidade/genética , Camundongos , Repetições de Microssatélites/genética , Dados de Sequência Molecular , Fases de Leitura Aberta/genética , Pseudogenes/genética , Reprodutibilidade dos Testes , Sintenia/genética
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