87,586 research outputs found
Identification of two SNPs in the 5' flanking region of the ACP1 gene and evaluation of disequilibrium among polymorphic sites.
No full textWe have studied the 5' flanking region of the ACP1 gene looking for new polymorphisms. Two SNPs, DdeI and FokI restricted, have been found in this region. We determined the genotype of DdeI and FokI SNPs, as well as of three other known SNPs, codon 43 (CfoI restricted), codon 41 and codon 105 (TaqI restricted), located respectively in exons 3, 4 and 6 in 62 unrelated subjects from the Italian population. Haplotype distribution for the ten possible pairs of loci were determined by a maximum likelihood procedure. Overall, statistically significant deviations from expected frequencies assuming equilibrium have been observed for the following pairs: FokI/codon 41, FokI/TaqI, codon 41/TaqI (complete association), DdeI/FokI, DdeI/codon 41 and DdeI/TaqI. The data suggest that the FokI area could include sequences operating in strict functional association with sequences included in the codon 41/TaqI area, possibly in order to regulate the F/S isoforms ratio of the A* and *B alleles. Since the ratio between the concentration of the two F and S isoforms is different for the three ACP1 alleles, we suggest that the ACP1 locus has been subjected to strong selective pressure to obtain an optimal alternative splicing mechanism of the *A and *B alleles. The *C variant, on the other hand, seems completely independent from sequences in the FokI/codon 41/TaqI areas, resulting in an inverted F/S ratio compared to that found for *A and *B alleles
March. Ant. Bottini
No full textBotanico: Bottini, Antonio (1850-1931).
Dottore in Scienze naturali, docente di botanica e aiuto all\u27Orto botanico dell\u27università di Pisa.
Titolo manoscritto sul recto, dove compaiono anche le note: autograf.; Racc. [raccolta] Levier, 1912; f. 1885; n. 1850.
Nota manoscritta sul verso: Antonio Bottini nato a Lucca in Decembre 1850, fotografato in novembre 1885.
Montata su cartoncino 110 x 68 mm.
1 fotografia : albumina ; 93 x 60 mm.
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Maternal cigarette smoking, metabolic enzyme polymorphism, and developmental events in the early stages of extrauterine life
No full textThe recent observation that maternal ACP1 genotype has an interactive effect with smoking on intrauterine development prompted us to search for a possible interaction effect between smoking and ACP1 genotype on haptoglobin (Hp) development in the neonatal period. ACP1 is a highly polymorphic protein tyrosine phosphatase involved in signal transduction of several growth factor receptors. The enzyme is composed of two isoforms, F and S. We studied 299 infants born in the Department of Obstetrics of the University Hospital of Rome La Sapienza. We found that an interaction between ACP1 genotype and smoking has an effect on haptoglobin development: A significant delay of haptoglobin development in infants born to smoking mothers is observed only in infants with the ACP1 *B/*B genotype, which shows the highest concentration of the ACP1 F isoform. The results indicate that the ACP1 genotype modifies the deleterious effects of smoking on development not only during intrauterine life but also during the early stage of extrauterine life
A study of acid phosphatase locus 1 in women with high fat content and normal body mass index
No full textDe Lorenzo and coworkers have recently described a class of women with normal body mass index (BMI) and high fat content (normal weight obese syndrome [NWO]). This observation prompted us to study the possible role of acid phosphatase locus 1 (ACP(1)) in the differentiation of this special class of obese subjects. Acid phosphatase locus 1 is a polymorphic gene associated with severe obesity and with total cholesterol and triglycerides levels. The enzyme is composed by 2 isoforms--F and S--that have different biochemical properties and probably different functions. The sample study was composed of 130 white women from the population of Rome. Total fat mass and percentage of fat mass were measured by dual-energy x-ray absorptiometry. Thirty-six women had a BMI less than 25 and percentage of fat mass greater than 30 (high fat, normal BMI [HFHB]), and 94 women showed a BMI greater than 25 and a percentage of fat mass greater than 30 (high fat, high BMI [HFHB]). In the whole sample, the proportion of low-activity ACP(1) genotypes (*A/*A and *B/*A) was higher than in controls. However, whereas HFNB showed a very high frequency of ACP(1) *A/*A genotype, high-fat, high-BMI women showed an increase of *B/*A genotype. These 2 genotypes differ in the concentration of F isoform and the F/S ratio, which are lower in ACP(1)*A/*A genotype than in ACP(1)*B/*A genotype. The genetic differentiation of the class of women with normal BMI and high fat content from the class showing a concordant level of the 2 parameters supports the hypothesis that HFNB class represents a special cluster of obese subjects not revealed by BMI evaluation. Because ACP(1) is present in adipocytes, the present observation suggests that F isoform may have a specific role in the regulation of quantity of adipose tissue
How the vestibular system modulates tactile perception in normal subjects: a behavioural and physiological study
No full textCaloric vestibular stimulation (CVS) is a physiological technique demonstrated to transiently improve hemianaesthesia in right brain-damaged patients (Bottini et al. in Exp Brain Res 99(1):164-169, 1994, Nature 376:778-781, 1995, Neurology 65(8):1278-1283, 2005). Recent studies suggest that these effects are based on the anatomical overlapping between vestibular and tactile projections (Bottini et al. in Nature 376:778-781, 1995) in the human brain. However, much less is known about behavioural effects of this manipulation on normal subjects. We aimed to explore tactile perception during left ear CVS in normal subjects. We administered seventeen right-handed normal subjects with different types of tactile stimuli (above and below threshold) during left ear CVS. To further ensure standardized procedure, tactile stimulation was delivered through a tool-developed ad hoc for the experiment. The experiment was divided in 3 conditions: (1) Baseline, (2) PostCVS and (3) Delayed CVS. We found a main effect of stimulus type (F ((2,32)) = 907.712; P = 0.000) and condition (F ((2,32)) = 55.505; P = 0.000). Moreover, post hoc comparisons revealed that below threshold stimuli are most affected by CVS (t ((16)) = -11.213; P = 0.000). Left ear CVS modulates tactile perception also in normal subjects. Moreover, this modulation seems to be selective for below threshold stimuli and not caused by attentive processes. A multisensory phenomenon is possibly the best explanation for this interaction between touch and vestibular systems, corroborated also by the anatomical evidence and by the previous knowledge about interaction with the environment
Genetic polymorphism and natural fertility in women
No full textObjective: To investigate the cooperative interaction among five genetic systems (phosphoglucomutase locus 1, adenosine deaminase locus 1, acid phosphatase locus 1, adenylate kinase locus 1, and haptoglobin) concerning their effects on natural fertility in humans. Natural fertility has been evaluated by a model of age related differences between the distributions of types among pregnant women.Methods: A total of 137 nonsmoking consecutive puerperaes from the white population who had delivered their first born baby in the Maternity Department of S. Massimo Hospital of Penne were studied. The phenotypes of the five systems studied were determined by starch gel electrophoresis. Statistical analysis was performed using the statistical package for the social science.Results: There was a highly significant negative correlation between maternal age and the number of genetic factors showing a lower maternal age at the birth of the first child, which suggested a positive cooperative interaction among these factors concerning their effects on fertility.Conclusions: In the relationship of mother-fetus, besides nutritional factors, genetic factors involved in immunological interaction of the embryo with the mother are of paramount importance. Haptoglobin and adenosine deaminase locus 1 polymorphisms are involved in immune reactions and our data indicate that genetic variability within these systems gives a more important contribution to variation of human fertility as compared to acid phosphatase locus 1, phosphoglucomutase locus 1 and adenylate kinase locus 1 that are mainly involved in metabolic functions
Phosphotyrosine-protein-phosphatase and diabetic disorders. Further studies on the relationship between low molecular weight acid phosphatase genotype and degree of glycemic control
No full textWe have studied a new sample of 276 NIDDM patients from the population of Penne (Italy). Comparison of the new data with those of 214 diabetic pregnant women from the population of Rome reported in a previous paper has shown that the pattern of association between low molecular weight acid phosphatase genotype and degree of glycemic control is similar in the two classes of diabetic patients. Among nonobese subjects the proportion of ACP1*A (the allele showing the lowest enzymatic activity) is lower in diabetic patients with high glycemic levels (mean value greater than 8.9 mmol/l) than in diabetic patients with a low glycemic level (mean value less than 8.9 mmol/l). Among obese subjects no significant association is observed between glycemic levels and ACP1. Among nonobese subjects the concentration of f isoform of ACP1 is higher in patients showing a high glycemic level than in patients showing a low glycemic level. No significant difference is observed for s isoform
Acid phosphatase locus 1 (ACP1): Possible relationship of allelic variation to body size and human population adaptation to thermal stress - A theoretical perspective
No full textThe acid phosphatase locus 1 (ACP1) codes for a low molecular weight phosphotyrosine protein phosphatase that has the important action of dephosphorylating tyrosine phosphorylated proteins and peptides and a second important role in modulating flavin cofactor levels and the activity of flavo-enzymes. These functions significantly influence cell division, differentiation, and growth. Two alleles (ACP1*A and ACP1*B) reach polymorphic frequencies at the ACP1 locus in all human populations, while the ACP1*C and ACP1*R alleles reach polymorphic frequencies in restricted geographical regions. The worldwide distribution of these alleles, and data from several clinical studies, strongly suggest that the ACP1 locus functions to modulate growth and that selection at this locus is a component of the selective processes influencing body mass and human population adaptation to thermal stress. The ACP1*A allele reaches highest frequencies at extreme latitudes and appears to be associated with maximizing body mass and adaptation to cold stress, whereas the ACP1*B allele reaches highest frequencies in tropical and subtropical environments and appears to be associated with minimizing body mass and adaptation to heat stress. The high frequency of the ACP1*C allele at northern latitudes, where ACP1*A allele frequencies are elevated, may be a mechanism for limiting fetal and maternal complications associated with fetal macrosomia and adult obesity in populations where protein and calorie intake are relatively hig
Atopic and non atopic asthma in children
No full textIn 155 asthmatic children we have studied the relationship between prick test positivity and a set of genetic factors previously found to be associated with bronchial asthma. Among these factors, MN system (p = 0.009) and age at onset of symptoms (p = 0.05) are the most important variables separating prick test negative from prick test positive children. MN and age at onset influence independently prick test positivity pointing to an additive effect of the two variables. M phenotype appears correlated positively with an increased susceptibility to nonallergic asthma in all age groups, whereas N phenotype appears correlated positively with age at onset but in allergic asthma only. The MN system codifies for glycophorin A, a sialoglycoprotein that represents a major ligand for several bacteria and viruses that recognize the N-acetylneuraminic acid present in this protein. The present data suggest that genetic variability in this system might influence bacterial and viral competition and mucosal damage influencing susceptibility to asthmatic reactions in absence of IgE hyperproduction
Seasonal variation of genotype-specific fertility and adaptation to endemic diseases: a study in past malarial areas of Italy
No full textCyclic seasonal variation of genotype-specific fertility could interact with endemic diseases characterized by seasonal variation of severity resulting in changes of gene frequencies in the course of generations. Assuming that a given allele A has a frequency pw in infants conceived in the cold season and a frequency of ps in those conceived in the warm season and assuming that general fertility is the same in the two seasonal periods, the gene frequency in the population is pm = (pw + ps)/2; this frequency remains constant over the course of generations. The introduction of an endemic disease bearing negatively on general fertility and characterized by a seasonal pattern of severity could result in variations of the A allele frequency. If the maximum of endemicity coincides with the maximum value of the allele A frequency, the frequency of allele A will progressively decrease. A simple mathematical algorithm has been applied to two polymorphic enzymes (ACP1 and G6PD) correlated with past malarial morbidity in Sardinia and the Po River delta. The two systems show differences in gene frequency in relation to season of conception. The theoretical changes fit quite well with the data observed in Sardinian and Po delta populations, thus suggesting a mechanism that is an alternative to or concurrent with the classical mechanism that assumes a direct connection between the genetic systems and the biology of the malarial parasite
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