RESUMO
We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non-syndromic sensorineural deafness. The amino acid sequence of the protein hDelGEF1 is homologous to the nucleotide exchange factor RCCI for the small GTPase Ran. hDelGEF2 is derived from the same DELGEF gene by alternative splicing. In addition, we have identified a murine homologue, mDelGEF. The ubiquitously expressed soluble protein hDelGEF1 is found both in the cyytoplasm and in the nucleus. Overexpressed hDelGEF2 colocalizes with mitochondria.
Assuntos
Proteínas de Ciclo Celular , Proteínas de Ligação a DNA/genética , Surdez/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Proteínas Nucleares , Processamento Alternativo , Sequência de Aminoácidos , Animais , Sequência de Bases , Células COS , Mapeamento Cromossômico , Cromossomos Humanos Par 11/genética , Clonagem Molecular , Proteínas de Ligação a DNA/química , Éxons , Imunofluorescência , Regulação da Expressão Gênica , Fatores de Troca do Nucleotídeo Guanina/química , Células HeLa , Humanos , Íntrons , Camundongos , Dados de Sequência Molecular , RNA Mensageiro/metabolismo , Alinhamento de SequênciaRESUMO
On the basis of our own patient population of the last 12 years which involved 17 traumatic ruptures of the descending thoracic aorta in the isthmus area (preoperative hospital mortality at the time of diagnosis: 5.8%; surgical mortality: 27%; postoperative hospital mortality: 18.7%) the problems of assessing indications for surgical intervention in polytraumatized patients with aortic damage are discussed. The indications for "immediate surgery", for "surgery with delayed urgency", and for "surgery in the interval" are clearly defined.
