RESUMO
Familial keratosis palmaris et plantaris (KPPF) is characterized by extreme keratinization and desquamation of the skin of the palmar and plantar surfaces of the hands and feet. We have mapped the causative genetic defect to an 8 cM interval on 17q12-24 in or close to the acidic keratin (type I) gene cluster. We show that KPPF co-segregates with a rare, high molecular weight allele of an insertion-deletion polymorphism in the C-terminal coding region of the keratin 10 gene (Z = 8.36 at theta = 0.00) and segrates as a true autosomal dominant trait. Some pedigrees with familial hyperkeratosis of the palms and soles have co-inherited diseases such as congenital malformations and familial cancers. Our analysis provide a region which should be investigated for contiguous gene syndromes in such pedigrees.
Assuntos
Cromossomos Humanos Par 17 , Queratinas/genética , Ceratodermia Palmar e Plantar/genética , Receptores do Ácido Retinoico/genética , Sequência de Bases , Mapeamento Cromossômico , DNA , Análise Mutacional de DNA , Feminino , Genótipo , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Receptor alfa de Ácido RetinoicoRESUMO
The primary structure of bovine cerebellum GTP-binding protein alpha-subunit, protein G39, was determined by parallel analysis of the protein amino acid sequence and the corresponding cDNA nucleotide sequence. The protein consists of 354 amino acid residues and has a molecular mass of 40064 Da. High homology between G39 and other G-proteins, especially rat brain G0, was shown. An assumption is made that certain brain adenylate cyclase system properties are determined by the presence of G39.
