ABSTRACT
<p><b>OBJECTIVE</b>To analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations.</p><p><b>METHODS</b>PROKR2 and RROK2 genotypes were identified by multiplex polymerase chain reaction analysis with exon-flanking primers and by automated sequencing techniques with peripheral blood DNA samples from 59 patients with PSIS.</p><p><b>RESULTS</b>Of these 59 PSIS patients, 6 showed intragenic deletions at the PROKR2 locus. Of them, 5 patients exhibited intragenic subsititution of exon 2 (c.991G>A), and the remaining one patient exhibited intragenic subsititution of exon 2 (c.1057C>T). No PROK2 mutation was found in these PSIS patients.</p><p><b>CONCLUSION</b>PROKR2 may be the susceptibility gene of PSIS.</p>
Subject(s)
Humans , Exons , Gastrointestinal Hormones , Genotype , Mutation , Neuropeptides , Pituitary Diseases , Receptors, G-Protein-Coupled , Receptors, PeptideABSTRACT
<p><b>OBJECTIVE</b>To investigate whether progesterone receptor B (PRB) can be sumoylated by SUMO-2/3 and the effect of sumoylation on PRB transcriptional activity.</p><p><b>METHODS</b>SUMO-2/3 cDNA was amplified from MCF-7 cDNA and cloned into the eukaryotic expression vector pcDNA3-FLAG. The plasmid pXJ40-myc-PRB was cotransfected with pcDNA3FLAG-SUMO2, pcDNA3FLAG-SUMO3 or the mock control into 293T cells, and PRB sumoylation was detected by immunoprecipitation and Western blotting. The effect of PRB sumoylation on its transcriptional activity was determined using reporter luciferase assay.</p><p><b>RESULTS</b>pcDNA3FLAG-SUMO2 and pcDNA3FLAG-SUMO3 vectors were successfully constructed. SUMO-2/3 could bind covalently to PRB and increase its transcriptional dependent on the presence of progesterone.</p><p><b>CONCLUSION</b>PRB can be sumoylated by SUMO-2/3 and its function is regulated by this modification.</p>
Subject(s)
Animals , Humans , Cell Line , Plasmids , Genetics , Receptors, Progesterone , Genetics , Metabolism , Small Ubiquitin-Related Modifier Proteins , Genetics , Metabolism , Transcription, Genetic , Transfection , Ubiquitination , Ubiquitins , Genetics , MetabolismABSTRACT
Objective To study the clinical characters,the mode of inheritance of osteogenesis Imperfecta in a Chinese Family and effect of bisphosphonate on Osteogenesis Imperfecta.Methods Clinical data of proband and their family members were collected.The family patterns were mapped.clinical features were summarized and analyzed.Results(1)Clinical features:There are sixty members of four generations in the family.20 cases including proband's mother and cousin were diagnosed as having OI type Ⅰ based on clinical manifestations.15 cases of blue sclera,16 cases of dentinogenesis imperfecta,5 cases of hearing loss and 3 cases of fracture.Thyroid cancer and Turner's syndrome was found in Proband's mother and cousin respectively.(2)The genetic map showed that the disease was autosomal dominant inheritance.(3)Treatment:The proband,her mother and her cousin were treated with alendronate for two years.Bone pain relieved and bone mineral density increased significantly,and no fracture occurred so far.Conclusion(1)This OI family was diagnosed as having OI type Ⅰ.The mode of inheritance is autosomal dominant inheritance.(2)Bisphosphonates may be an effective drug for treatment of OI.