Disease relevance of INPP1

• This is the first study to report the upregulation of the INPP1 gene in a human cancer and should facilitate further studies looking at the role of phosphatidylinositol signaling reactions in human colorectal cancer [1].
• Hypertrophied cells from both cell models as well as ventricular tissue from mouse hearts hypertrophied by pressure overload in vivo contained heightened levels of Ins(1,4)P(2), suggesting reduced INPP activity in three different models of hypertrophy [2].
• Other than a tendency toward a larger MOV, a higher incidence of oligomenorrhea, obesity, and frequency of neurological disorders, recovery of the reproductive axis after GnRH analog therapy was not markedly different in HH compared to IPP [3].
• We studied 65 children with either idiopathic (IPP; n = 50 girls and 3 boys) or neurogenic central precocious puberty (NPP; n = 5 girls and 7 boys) [4].
• Seizure disorders developed during GnRH analog therapy in 5 HH and 1 IPP patient, and 2 additional HH girls developed severe depression and emotional lability posttherapy [3].

Psychiatry related information on INPP1

• An association study was performed between the 5' regulatory region of the serotonin transporter gene (5-HTTLPR), the inositol polyphosphate 1-phosphatase gene (INPP1) and bipolar disorder using our sample of proband/parent trios [5].
• Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism [6].
• In this prospective study we compare patterns of health service costs by three groups of people with personality disorder treated in a hospital-based program (IPP), a step down program (SDP), and a general psychiatric program (GPP) [7].

High impact information on INPP1

• The recent cDNA cloning of inositol monophosphatase (Diehl et al., 1990), Ins(1,4,5)P3 3-kinase (Choi et al., 1990), and inositol polyphosphate 1-phosphatase (York and Majerus, 1991) should provide tools to define further the cell biology of the phosphatidylinositol signaling pathway [8].
• Inositol polyphosphate 1-phosphatase, inositol monophosphate phosphatase, and fructose 1,6-bisphosphatase share a sequence motif, Asp-Pro-(Ile or Leu)-Asp-(Gly or Ser)-(Thr or Ser), that has been shown by crystallographic and mutagenesis studies to bind metal ions and participate in catalysis [9].
• The identification of the human inositol polyphosphate 1-phosphatase gene locus provides a target for linkage analysis to identify defects in patients with inherited psychiatric disorders that respond to lithium ions, an inhibitor of the enzyme [10].
• Polymerase chain reaction assay of a panel of human-rodent somatic cell hybrid DNA using human inositol polyphosphate 1-phosphatase-specific DNA primers resulted in amplification of a specific product using chromosome 2 DNA as template [10].
• Inositol polyphosphate 1-phosphatase, an enzyme in the phosphatidylinositol signaling pathway, catalyzes the hydrolysis of the 1 position phosphate from inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate [10].

Chemical compound and disease context of INPP1

• Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder [11].

Biological context of INPP1

• We report the genomic structure and organization of the INPP1 gene on chromosome 2q32 [12].
• Based on DNA sequencing of the entire genomic region containing INPP1, we found that the gene consists of six exons and spans more than 25 kb [12].
• Intriguingly, Drosophila mutants lacking IPPase activity display a defect in synaptic transmission, and this alteration could be phenocopied by lithium exposure [12].
• Marked obesity (BMI, +2 to +5.2 SD score) was observed in 5 HH and 6 IPP patients, 1 of whom had a BMI of +2.5 SD score and developed acanthosis nigricans, insulin resistance, and hyperglycemia [3].
• Live births of normal infants were reported by 2 HH and 2 IPP patients, and elective terminations of pregnancy were reported by 1 HH and 2 IPP patients [3].

Anatomical context of INPP1

• Expression analysis showed that INPP1 is present as a 1.9 kb mRNA transcript in all organs and tissues examined, including the central nervous system [12].
• PURPOSE: The ease of the transscrotal approach for penile prosthesis implantation and the proximity of the urethra has allowed the evolution of a new strategy for dual implantation of an AUS and IPP at a single setting [13].
• We have used suppression subtractive hybridization to demonstrate significant overexpression of the inositol polyphosphate 1-phosphatase gene (INPP1) in colorectal cancer compared with matched normal colon epithelium [1].
• OBJECTIVES: To determine the effect of intravesical protrusion of the prostate (IPP, graded I to III) on lower urinary tract function, by correlating it with the results of a pressure-flow study [14].
• Human erythrocytes incubated in inosine-pyruvate-phosphate (IPP) medium are able to accumulate great amounts of inosine monophosphate (IMP) and inosine triphosphate (ITP) [15].

Associations of INPP1 with chemical compounds

• The present sequence information will be used to further investigate the possible role of the INPP1 gene in lithium-treated bipolar illness [12].
• The functional polymorphism in the upstream regulatory region of the serotonin transporter gene (5-HTTLPR) has been associated with lithium long-term efficacy in two independent studies, marginal associations have been reported for tryptophan hydroxylase and inositol polyphosphate 1-phosphatase (INPP1) [16].
• Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes [5].
• A novel mammalian lithium-sensitive enzyme with a dual enzymatic activity, 3'-phosphoadenosine 5'-phosphate phosphatase and inositol-polyphosphate 1-phosphatase [17].
• We propose that overexpressed inositol polyphosphate 1-phosphatase degrades a stimulatory inositol phosphate(s) and thereby inhibits DNA synthesis [18].

Analytical, diagnostic and therapeutic context of INPP1

• Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1) [12].
• We report the molecular cloning in Rattus norvegicus of a novel mammalian enzyme (RnPIP), which shows both 3'-phosphoadenosine 5'-phosphate (PAP) phosphatase and inositol-polyphosphate 1-phosphatase activities [17].
• Pelvic ultrasonography revealed more than 10-mm hypoechoic regions in 4 HH patients, 15 IPP patients, and 3 normal girls, all of whom were reporting regular menses [3].
• The induced circular dichroism (CD) was used to determine the dissociation constant and the number of binding sites for IPP [19].
• MATERIALS AND METHODS: We performed a multi-institutional, retrospective analysis in patients with 2 urological prostheses (AUS and IPP) [13].

References