ACP1 and human adaptability 1. Association with common diseases: a case-control study

Abstract

Human red cell acid phosphatase (ACP1) is a polymorphic enzyme closely related to cytosolic low molecular weight acid phosphatases, a protein family broadly conserved among eukaryotes. Two different functions have been proposed for ACP1: flavin mononucleotide (FMN) phosphatase and phosphotyrosine phosphatase (PTPase). Given that genetic variants of ACP1 activity are common, the enzyme could have a role in regulating a large spectrum of cellular functions and, in turn, disease susceptibility. In the present paper we report a study of ACP1 genetic polymorphism in 1088 normal subjects and in 1267 subjects from the population of Rome admitted to hospital for a number of common diseases. All ACP1 parameters investigated show highly significant differences among samples, suggesting that the enzyme may have a significant role in some of the diseases considered. In particular, consistent associations of ACP1 with developmental disturbances and with hemolytic favism have been observed. In the majority of diseases showing association with ACP1, only one of the two ACP1 isoforms, f and s, is involved, supporting the hypothesis of a functional differentiation between the two enzymatic fractions.

The genetics of signal transduction and the outcome of diagnostic tests in growth retardation

“…For our analyses in the present study, subjects were subdivided into two categories: low-medium ACP1 activity (*A/*A, *A/*B and *B/*B) and high activity (*A/*C, *B/*C and *C/*C ). The first class includes genotypes with very low S isoform concentrations (<4 µg/ml red blood cells) and the second class those with high S isoform concentrations (>12 µg/ml red blood cells) (Bottini et al 1995).…”

“…Acid phosphatase locus 1 (ACP1) is an enzyme involved in the signal transduction of insulin and other growth factors (Dissing 1993, Bottini et al 1995, Chiarugi et al 1997, Ramponi & Stefani 1997. ACP1 is encoded at a locus on chromosome 2 showing three common alleles *A, *B and *C (Dissing 1993, Bottini et al 1995.…”

“…ACP1 is encoded at a locus on chromosome 2 showing three common alleles *A, *B and *C (Dissing 1993, Bottini et al 1995. The enzyme is expressed in mammals as two distinct isoforms, designated F and S with reference to their electrophoretic mobility.…”

Intracellular tyrosine phosphatases and kinases in lymphoma

“…LMW-PTP dephosphorylates the negative regulatory site Y292 of PTK Zap70, which results in a slower down-modulation of cell surface T cell receptor (TCR) (Bottini et al, 2002a). Acid phosphatase locus 1 (ACP1) is a polymorphic gene located on chromosome 2 showing three common codominant alleles: ACP1A, ACP1B and ACP1C (Hopkinson et al, 1963;Bottini et al, 1995). The corresponding 6 genotypes are associated with different enzymatic activities (Spencer et al, 1964).…”

Association of erythrocyte acid phosphatase phenotypes with myopia

“…The reduced concentration of f isoform of AA phenotype may result in enhanced tyrosine phosphorylation of B3P protein resulting in enhanced rate of glycolysis and subsequent oxidative stress. [3] Myopia or nearsightedness is a condition whereby images are focused in front of retina. Genetic and several environmental factors have been implicated in development of myopia.…”