Alterations in the suppressor gene PPP2R1B in parathyroid hyperplasias and adenomas.
Deletion of chromosome 11q23 is a common alteration in parathyroid adenomas and hyperplasias. A new potential suppressor gene PPP2R1B encoding the beta isoform of the A subunit of the serine/threorine protein phosphatase 2A was recently identified and localized to chromosome 11q23. We performed polymerase chain reaction-based single-strand conformation polymorphism and direct sequencing on six parathyroid hyperplasias and 12 adenomas to evaluate the role of PPP2R1B in the pathogenesis of parathyroid lesions. A previously identified germline G-A transition (GGC-GAC) in codon 90, changing glycine (Gly) to aspartic acid (Asp), was detected in one adenoma. Both the common Gly allele and the variant Asp allele were detected by direct sequencing in the patient's somatic cells. We conclude mutations of PPP2R1B are not frequent in parathyroid lesions, and that other genes located at 11q23 may be more closely associated with pathogenesis of parathyroid hyperplasia and adenoma.
Hemmer
Samuli
S
Department of Oncology, Haartmaninkatu 4, P.O. Box 180, FIN-00029 HUS, Helsinki, Finland.
Wasenius
Veli Matti
VM
Haglund
Caj
C
Zhu
Ying
Y
Knuutila
Sakari
S
Franssila
Kaarle
K
Joensuu
Heikki
H
D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins; D010280:Parathyroid Glands / Q000378:metabolism* / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D018807:Polymorphism, Single-Stranded Conformational; D054648:Protein Phosphatase 2; D011506:Proteins / Q000235:genetics*
D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; C432785:PPP2R1B protein, human; D011506:Proteins; D004247:DNA; D054648:Protein Phosphatase 2