Survey of milk protein polymorphism in the "Bovina Rossa Siciliana"

The “Rossa Siciliana” is an autochthonous small Sicilian dairy cattle population, accounting for 5-7,000 individuals.This breed is characterized by high ability to live on poor pasture lands, moderate milk production, and traditionally linked to cheese production. Aim of this work was to investigate milk protein polymorphisms in this population. A total of 62 individual milk samples were collected from 19 extensive farms spread in the “Parco dei Nebrodi” area (Messina). All samples were analyzed by isoelectrofocusing (IEF) with pH range 2.5-6. High variability was found at the CSN1S1, CSN2, CSN3, LGB and LALBA loci, while the CSN1S2 locus was monomorphic for the A allele. The allele frequencies and the Hardy-Weinberg equilibrium were estimated using the GENEPOP software, further the casein haplotype frequencies and the occurrence of the linkage disequilibrium were computed with the EH software, taking into account the association among loci. Joint analysis at all loci showed that the population is not in Hardy-Weinberg equilibrium (Chi-square=19.0, pvalue=0.0407), probably due to genetic drift. Of the three alleles detected at CSN1S1 locus, CSN1S1*B and CSN1S1*C had high frequencies (0.734 and 0.258 respectively), as reported for most breeds. The CSN1S1*D allele was detected with a low frequency (0.008). High frequencies were found for CSN2*A2 (0.573) and CSN3*B (0.637). High frequencies were observed for LALBA*B (0.903) and LGB*B (0.815). Strong linkage disequilibrium was detected for the polymorphic casein loci CSN1S1-CSN2-CSN3. For the casein haplotype only the hypothesis of association among loci was considered. Out of the 27 expected, only four haplotypes had a frequency higher than 0.10. The most frequent haplotype was BA2B (0.236), followed by CA2B (0.214), BA1A (0.168), BA1B (0.131), and BA2A (0.094). The high frequency of BA2B haplotype and the possible relation with production traits are under investigation

Chromosomal assignment of the ovine hairless (hr) gene by fluorescence in situ hybridization.

Congenital hypotrichosis in mammalian species consists of partial or complete absence of a hair coat at birth. Affected individuals having a partial hair coat at birth may loose it subsequently.The aim of this paper was to physically map the ovine hr gene using fluorescence in situ hybridization (FISH).A preliminary study on an internet data bank (http://www.informatics.jax.org) showed that the regions of the hr gene on murine chromosome 14 and human chromosome 8 present homology with ovine chromosome 2

Loss of H2A.Z Is Not Sufficient to Determine Transcriptional Activity of Snf2-Related CBP Activator Protein or p400 Complexes

The p400 and SRCAP (Snf2-related CBP activator protein) complexes remodel chromatin by catalyzing deposition of histone H2A.Z into nucleosomes. This remodeling activity has been proposed as a basis for regulation of transcription by these complexes. Transcript levels of p21 or Sp1 mRNAs after knockdown of p400 or SRCAP reveals that each regulates transcription of these promoters differently. In this study, we asked whether deposition of H2A.Z within specific nucleosomes by p400 or SRCAP dictates transcriptional activity. Our data indicates that nucleosome density at specific p21 or Sp1 promoter positions is not altered by the loss of either remodeling complex. However, knockdown of SRCAP or p400 reduces deposition of H2A.Z∼50% into all p21 and Sp1 promoter nucleosomes. Thus, H2A.Z deposition is not targeted to specific nucleosomes. These results indicate that the deposition of H2A.Z by the p400 or SRCAP complexes is not sufficient to determine how each regulates transcription. This conclusion is further supported by studies that demonstrate a SRCAPΔATP mutant unable to deposit H2A.Z has similar transcriptional activity as wild-type SRCAP

Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: effects of L-thyroxine substitution therapy

Thyroid status in humans is an important factor in the regulation of lipoprotein metabolism. There are several data on hypothyroidism in the adult population, but less information is available about congenital hypothyroidism. Since lipid metabolism at birth is substantially different from that of adults, it is not likely that the same abnormalities that occur in adult hypothyroidism are also present when this is diagnosed at early life. We studied 16 subjects with congenital hypothyroidism, seven at the time of diagnosis and also after normalization of thyroid hormone levels over a period of 2.0 +/- 1.0 months of substitution therapy with L-thyroxine (5.9 +/- 1.2 micrograms/kg/d) and nine already on L-thyroxine therapy for a period of 4.7 +/- 3.2 months. Thirty-nine apparently healthy subjects matched for age were selected as controls. In all subjects, total cholesterol (CHO), triglycerides (TG), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol (HDL-C), apolipoproteins (apo) A-I and B, lipoprotein(a) [Lp(a)] thyrotropin (TSH), (LDL-C), total and free thyroxine (T4), and triiodothyronine (T3) were determined. CHO, HDL-C, and apo A-I levels were significantly higher in patients at the time of diagnosis than in controls (respectively, P = .0079, .0007, and .0004), whereas TG, LDL-C, apo B, and Lp(a) levels were not significantly different. During L-thyroxine substitution therapy in these subjects, HDL-C and apo A-I levels significantly decreased (respectively, by a mean of -36.2% and -24.4%), with similar behavior in all subjects.(ABSTRACT TRUNCATED AT 250 WORDS

Resezioni polmonari limitate “intenzionali” versus lobectomie nel trattamento dei tumori polmonari periferici non microcitomi allo stadio IA

Scopo del presente studio è valutare, attraverso l’analisi retrospettiva della nostra casistica e la revisione della letteratura, se le resezioni polmonari limitate siano equivalenti alla lobectomia nel trattamento dei tumori polmonari non microcitomi (NSCLC) periferici allo stadio IA (T1N0M0), in termini di radicalità oncologica, sopravvivenza e tasso di recidive locali, regionali e sistemiche.Viene inoltre preso in considerazione l’impatto delle resezioni limitate, rispetto alle resezioni lobari, sulla funzionalità polmonare postoperatoria. Pazienti e metodi. Abbiamo analizzato una serie consecutiva di 36 pazienti, 28 uomini e 8 donne, di età compresa fra 61 e 81 anni (media 73 anni), sottoposti ad intervento chirurgico, nel periodo compreso fra gennaio 2000 e dicembre 2003, per NSCLC periferici T1N0M0; sono state effettuate 11 resezioni limitate e 25 lobectomie. Sono state analizzate comparativamente sopravvivenza e recidive (follow-up 3-5 anni), nonché le prove di funzionalità respiratoria ad un anno dall’intervento. Risultati. La sopravvivenza a 3 e 5 anni è stata pari all’88% ed all’82% nel gruppo dei pazienti sottoposti a resezioni limitate, al 93% e all’88% nel gruppo dei pazienti sottoposti a lobectomia. Si è verificata una recidiva locale (9%) nel primo gruppo, una (4%) nel secondo. Ad un anno dall’intervento si sono osservati un moderato decremento del volume espiratorio forzato in 1 secondo (FEV1) e della capacità di diffusione per monossido di carbonio (DLCO) nei pazienti sottoposti a resezione lobare, e un sostanziale mantenimento dei parametri funzionali preoperatori, eccezion fatta per la DLCO, nei pazienti sottoposti a resezione limitata. Conclusioni. La nostra circoscritta esperienza, in accordo con le tendenze attuali della letteratura, indica che l’intervento di resezione polmonare limitata, in pazienti selezionati, con NSCLC periferici allo stadio IA, rappresenta una valida alternativa alla lobectomia in termini di sopravvivenza e tasso di recidiva, determinando altresì un minor decremento della funzionalità polmonare postoperatoria. La segmentectomia può essere dunque considerata, in tali casi, procedura chirurgica di scelta, anche in pazienti in grado di tollerare una resezione maggior

Prion protein gene frequencies in three Sicilian dairy sheep populations

The objective of this paper was to investigate the prion protein (PrP) genotype and haplotype frequencies in three Sicilian dairy sheep populations. The three populations were: (1) 1096 Valle del Belice animals, (2) 1143 Comisana animals, and (3) 1771 individuals from 5 flocks with scrapie outbreaks, in which the animals were crossbreds derived from indigenous Sicilian dairy breeds. PrP genotypes are described for the three codons 136 (Alanine or Valine; A, V), 154 (Histidine or Arginine; H, R), and 171 (Glutamine, Arginine or Histidine; Q, R, H) which represent polymorphisms known to be linked with scrapie susceptibility. The Valle del Belice haplotype frequencies were 32.3% ARR, 6.5% AHQ, 1.0% ARH, 58.8% ARQ, and 1.4% VRQ. The Comisana frequencies were 39.4% ARR, 2.9% AHQ, 2.9% ARH, 50.9% ARQ, and 3.9% VRQ. In the flocks with scrapie outbreaks the frequencies were 32.8% ARR, 2.4% AHQ, 1.7% ARH, 59.1% ARQ, and 3.9% VRQ. In all three populations ARQ and ARR were the most frequent haplotypes. Multiple generations of strong selection will be needed to fixate the most resistant ARR haplotype