A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus

T in the cDNA, resulting in the substitution of Arg 97 by Cys (R97C) in the prepro-AVP-NPII precursor molecule) was identified in the gene region encoding neurophysin II in the index patient. This amino acid change is thought to result in the formation of an incorrectly folded hormone precursor, which may lead to chronic neurotoxicity and explain the dominant inheritance of the disease. -->

ISSN:	1096-7192
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a30872ae94f3721316e970ac076879 https://pubmed.ncbi.nlm.nih.gov/10329029
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....80a30872ae94f3721316e970ac076879
Autor:	Peter Kopp, Gary L. Robertson, Mary Beth Gaskill, T J Kotlar, Jonas Rutishauser
Rok vydání:	1999
Předmět:	Male endocrine system medicine.medical_specialty Vasopressin Endocrinology Diabetes and Metabolism DNA Mutational Analysis Neurophysins Biology medicine.disease_cause Oxytocin Biochemistry Endocrinology Neurophysin II Internal medicine Genetics medicine Humans Protein Precursors Molecular Biology Gene Genes Dominant Mutation Transition (genetics) Models Genetic medicine.disease Pedigree Arginine Vasopressin Diabetes insipidus Female hormones hormone substitutes and hormone antagonists Diabetes Insipidus medicine.drug
Zdroj:	Molecular genetics and metabolism. 67(1)
ISSN:	1096-7192
Popis:	Autosomal-dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the gene encoding vasopressin-neurophysin II (AVP-NPII) on chromosome 20p13. We analyzed the AVP-NP II gene in a family with adFNDI by direct sequencing. A novel C to T transition (289C-->T in the cDNA, resulting in the substitution of Arg 97 by Cys (R97C) in the prepro-AVP-NPII precursor molecule) was identified in the gene region encoding neurophysin II in the index patient. This amino acid change is thought to result in the formation of an incorrectly folded hormone precursor, which may lead to chronic neurotoxicity and explain the dominant inheritance of the disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a30872ae94f3721316e970ac076879 https://pubmed.ncbi.nlm.nih.gov/10329029 Zobrazit plný text záznamu Full Text from ScienceDirect