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C Santolamazza

Publications and source records attributed to C Santolamazza.

17 recordsLinked to original sources
PubMed1991

Characterization of the opposite-strand genes from the mouse bidirectionally transcribed HTF9 locus.

The mouse HTF9 locus contains two genes that are bidirectionally transcribed with opposite polarity from a shared CpG-rich island. Both genes were previously shown to be expressed in a housekeeping fashion in mouse. We have now determined the molecular organization of the genes over 12 kb surrounding the island. In addition, we show that the HTF9 locus resides in the proximal region of mouse chromosome 16. We have sequenced the cDNAs corresponding to both divergent transcripts. Both genes appear to code for novel proteins that are structurally unrelated to each other. Finally, we show that both genes are highly conserved and efficiently expressed in human cells.

Amino Acid Sequence↗
PubMed1989

Common and rare genetic variants of human red blood cell enzymes in Italy.

In the present paper we report on new data of the frequency of common and rare variants in the Italian population for ADA, AK-1, 6-PGD, EsA, EsB, EsD, PGM-1, PGM-2, SOD-A, AcP, GPT, and PGI. Moreover we present a comprehensive review of the available data on the electrophoretic variants of red cell enzymes in Italians. We find a considerable degree of genetic heterogeneity between the various populations living in the Peninsula and between the population of the Peninsula and of Sardinia. We also find that the estimates of the average heterozygosity are considerably smaller for the population of Sardinia as compared to Peninsula and Sicily. Finally, we report on the occurrence of several uncommon enzyme variants, which overall frequency is very similar to previously reported estimates for North European populations (Harris et al. 1974).

Acid Phosphatase↗
PubMed1986

Phosphoglycolate phosphatase polymorphism: gene frequencies in three Italian samples.

The electrophoretic polymorphism of the PGP locus has been studied in about 1,700 Italians. The sample consisted of individuals from Viareggio (North-Central Italy), Rome (Central Italy) and Cagliari (Sardinia, Southern Italy). Comparison among the three groups showed a high degree of heterogeneity. The Sardinian sample was well differentiated from the other two concerning the frequencies of both the PGP3 and of PGP2 alleles. The frequency of the PGP1 allele varied from 0.900 (Viareggio) to 0.987 (Cagliari). The gene frequencies, together with those available for other European populations were plotted against the latitudes of the different localities sampled and fitted to a North-South cline.

Climate↗
PubMed1980

Effects of propylthiouracil and methylmercaptoimidazole on thyroglobulin synthesis.

The effect of 6-propyl-2-thiouracil (PTU), and 1-methyl-2-mercaptoimidazole (MMI) on thyroglobulin (Tg) biosynthesis has been studied in vivo and in vitro. In vivo experiments were performed in rats treated for 20 days with PTU or MMI, analyzing soluble and particulate, cold and 125I-labelled, Tg. Thyroglobulin biosynthesis was also investigated by in vitro experiments, incubating thyroid tissue with labelled amino acid and carbohydrate in the presence of antithyroid compounds. It has been found that in vivo antithyroid agents decrease the amount of soluble Tg and increase the proportion of particulate Tg. Tg from treated animals is poorly iodinated being mainly represented by its 12S subunit. In vitro studies demonstrate that PTU and MMI inhibit Tg biosynthesis which is impaired in the polypeptide synthesis as well as in carbohydrate chains addition. Thus the inhibition of the hormonogenetic processes induced by antithyroid treatment leading to a depressed iodinating activity also appears to be related to a significant impairment of the production of the Tg molecule, the specific iodine acceptor.

Amino Acids↗
PubMedDate not supplied

Migration pattern and genetic marker distribution of the Afro-American population of Bluefields, Nicaragua.

On a sample of the population of mixed African ancestry living in Bluefields, Nicaragua, the pattern of migration and the distribution of red cell and serum genetic markers have been studied. It is concluded that, in spite of a considerable level of internal and external migration, a distinctive genetic structure is maintained by the population. Moreover, a strongly negative assortative mating can be observed between people inhabiting the western and eastern areas of Nicaragua. It is estimated that most, if not all, of the genetic pool of the population is accounted for by a process of admixture between African and Indian peoples.

Anthropology, Cultural↗
PubMedDate not supplied

Genetic heterogeneity in Sardinia: 15 polymorphisms examined in 11 isolates.

Blood group systems ABO, RH, MNS, KEL, FY, LU and P, red cell enzymes ACP1, PGM1, PGM2, ADA, DIA and PHI, serum markers GC, HP, IGHG1, IGHG3 and IGK were examined in about 900 individuals sampled in 11 Sardinian isolates. The genetic differentiation turned out to be relatively high and the relevance of selected and neutral genes has been evaluated.

Adolescent↗