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Insulin resistance by unprocessed insulin proreceptors point mutation at the cleavage site

Kobayashi, Masashi ; Sasaoka, Toshiyasu ; Takata, Yasumitsu ; Ishibashi, Osamu ; Sugibayashi, Masaaki ; Shigeta, Yukio ; Hisatomi, Akitaka ; Nakamura, Etsuo ; Tamaki, Mikio ; Teraoka, Hiroshi

Biochemical and biophysical research communications, 1988-06, Vol.153 (2), p.657-663 [Periódico revisado por pares]

San Diego, CA: Elsevier Inc

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Título:
Insulin resistance by unprocessed insulin proreceptors point mutation at the cleavage site
Autor: Kobayashi, Masashi ; Sasaoka, Toshiyasu ; Takata, Yasumitsu ; Ishibashi, Osamu ; Sugibayashi, Masaaki ; Shigeta, Yukio ; Hisatomi, Akitaka ; Nakamura, Etsuo ; Tamaki, Mikio ; Teraoka, Hiroshi
Assuntos: Base Sequence ; Biological and medical sciences ; Cell Membrane - metabolism ; Fundamental and applied biological sciences. Psychology ; Humans ; insulin ; Insulin - metabolism ; Insulin Resistance ; man ; Molecular and cellular biology ; Molecular genetics ; Molecular Weight ; Mutagenesis. Repair ; Mutation ; Protein Precursors - metabolism ; Protein Processing, Post-Translational ; Receptor, Insulin - genetics ; Receptor, Insulin - metabolism ; Structure-Activity Relationship
É parte de: Biochemical and biophysical research communications, 1988-06, Vol.153 (2), p.657-663
Notas: ObjectType-Article-2
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Descrição: Failure to cleave the interconnecting site between α- and β-subunit produced insulin proreceptors in the plasma membranes which had markedly low affinity to insulin, leading to extreme insulin resistance in a patient. We performed cDNA sequence analysis of the cleavage site of the insulin proreceptor from the patient. Polymerase chain reaction was used to obtain large amount of cDNA coding for the region including the interconnecting site. A thermostable DNA polymerase, Taq polymerase, successfully produced enough amount of cDNA of the region to be sequenced. The results showed AG G (Arg) to AG T (Ser) point mutation, resulting in the change of interconnecting sequence of the two subunits from -Arg-Lys-Arg- Arg- to -Arg-Lys-Arg- Ser-. These results suggest that the tertial structure change of the cleavage site leads to production of unprocessed insulin proreceptors.
Editor: San Diego, CA: Elsevier Inc
Idioma: Inglês

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Insulin resistance by unprocessed insulin proreceptors point mutation at the cleavage site

Kobayashi, Masashi ; Sasaoka, Toshiyasu ; Takata, Yasumitsu ; Ishibashi, Osamu ; Sugibayashi, Masaaki ; Shigeta, Yukio ; Hisatomi, Akitaka ; Nakamura, Etsuo ; Tamaki, Mikio ; Teraoka, Hiroshi

San Diego, CA: Elsevier Inc

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