RGD Reference Report - Organization of the human carboxypeptidase E gene and molecular scanning for mutations in Japanese subjects with NIDDM or obesity. - Rat Genome Database

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Organization of the human carboxypeptidase E gene and molecular scanning for mutations in Japanese subjects with NIDDM or obesity.

Authors: Utsunomiya, N  Ohagi, S  Sanke, T  Tatsuta, H  Hanabusa, T  Nanjo, K 
Citation: Utsunomiya N, etal., Diabetologia. 1998 Jun;41(6):701-5.
RGD ID: 1626184
Pubmed: PMID:9662053   (View Abstract at PubMed)
DOI: DOI:10.1007/s001250050971   (Journal Full-text)

Insulin is synthesized in the pancreatic beta cell as a larger precursor molecule proinsulin which is converted to insulin and C-peptide by the concerted action of prohormone convertase 2 (PC2), prohormone convertase 3 (PC3) and carboxypeptidase E (CPE). One of the features of non-insulin-dependent diabetes mellitus (NIDDM) is an elevation in the proinsulin level and/or proinsulin/insulin molar ratio suggesting that mutations in these three proinsulin processing enzymes might contribute to the development of NIDDM. The identification of a mutation in the CPE gene of the fat/fat mouse which leads to marked hyperproinsulinaemia and late-onset obesity and diabetes is consistent with a possible role for mutations in CPE in the development of diabetes and obesity in humans. In order to test this hypothesis, we have isolated and characterized the human CPE gene and screened it for mutations in a group of Japanese subjects with NIDDM and obesity. The human CPE gene consists of 9 exons spanning more than 60 kb. Primer extension analysis identified the transcriptional start site at -141 bp from the translational start site. Single strand conformational polymorphism analysis and nucleotide sequencing of the promoter and entire coding region of the CPE gene in 269 Japanese subjects with NIDDM, 28 nondiabetic obese subjects and 104 nonobese and nondiabetic controls revealed three nucleotide changes, a G-to-T substitution at nucleotide -53, a G-to-A substitution at nucleotide -144 (relative to start of transcription) in the promoter region and a silent G-to-A substitution in codon 219. None of the nucleotide substitutions were associated with NIDDM or obesity. Thus, genetic variation in the CPE gene does not appear to play a major role in the pathogenesis of NIDDM or obesity in Japanese subjects.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
obesity no_associationIAGP 1626184no association between obesity or diabetes and three SNPs (-53G>T more ...RGD 
obesity no_associationISOCPE (Homo sapiens)1626184; 1626184 RGD 
type 2 diabetes mellitus no_associationIAGP 1626184no association between obesity or diabetes and three SNPs (-53G>T more ...RGD 
type 2 diabetes mellitus no_associationISOCPE (Homo sapiens)1626184; 1626184 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cpe  (carboxypeptidase E)

Genes (Mus musculus)
Cpe  (carboxypeptidase E)

Genes (Homo sapiens)
CPE  (carboxypeptidase E)


Additional Information