Molecular determination of progesterone receptor’s PROGINS allele (Alu insertion) and its association with the predisposition and susceptibility to polycystic ovary syndrome (PCOS)

Mammalian Genome - Polycystic ovary syndrome, previously known as Stein–Leventhal syndrome, is associated with altered reproductive endocrinology, predisposing a young woman towards the risk...     

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene

Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [theta].00, and a multipoint LOD score of 10.3 for marker D19S881, at straight theta = .00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as "CMT4F." The myelin-associated glycoprotein (MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT.     

Susceptibility of certain Egyptian and imported wheat cultivars to infestation by Sitophilus oryzae and Rhyzopertha dominica

Stored wheat grains are vulnerable to attack by Sitophilus oryzae and Rhyzopertha dominica, which deteriorate the quality of the infested commodities, depletes nutrition value and makes them unfit for human consumption. The susceptibility of two Egyptian local (MISR1 and SIDS12) and four imported wheat (Hard Australian wheat, American Hard Red Winter, American Soft Red Winter and Romanian wheat) cultivars to infestation by S. oryzae and R. dominica was investigated. The Romanian cultivar was the most susceptible at infestation level of 20 adults/250g. For the other two infestation levels (10 and 15 adults/250g), the Romanian and American (SRW) varieties showed high susceptibility to S. oryzae by 5.13 and 5.52% and 4.32 and 4.76% for both varieties, in respect. On the other hand, the infestation with R. dominica showed the minimum weight loss in Romanian wheat and unexpectedly showed maximum number of emerged adults after three months storage. Maximum means of damaged grains were recorded in Romanian and American (HRW) cultivars caused by S. oryzae and R. dominica infestations, respectively. Moreover, chemical changes were recorded in nutritional composition of the grains when they were subjected to infestation with 20 unsexed adults/250g wheat by S. oryzae and R. dominica for three months storage.     

Deletion of the Candida albicans PIR32 Results in Increased Virulence, Stress Response, and Upregulation of Cell Wall Chitin Deposition

Candida albicans is a common opportunistic pathogen that causes a wide variety of diseases in a human immunocompromised host leading to death. In a pathogen, cell wall proteins are important for stability as well as for acting as antigenic determinants and virulence factors. Pir32 is a cell wall protein and member of the Pir protein family previously shown to be upregulated in response to macrophage contact and whose other member, Pir1, was found to be necessary for cell wall rigidity. The purpose of this study is to characterize Pir32 by generating a homozygous null strain and comparing the phenotype of the null with that of the wild-type parental strain as far as filamentation, virulence in a mouse model of disseminated candidiasis, resistance to oxidative stress and cell wall disrupting agents, in addition to adhesion, biofilm capacities, and cell wall chitin content. Our mutant was shown to be hyperfilamentous, resistant to sodium dodecyl sulfate, hydrogen peroxide, sodium chloride, and more virulent in a mouse model when compared to the wild type. These results were unexpected, considering that most cell wall mutations weaken the wall and render it more susceptible to external stress factors and suggests the possibility of a cell surface compensatory mechanism. As such, we measured cell wall chitin deposition and found a twofold increase in the mutant, possibly explaining the above-observed phenotypes.     

Competitive exclusion against Salmonella Enteritidis in layer chickens by yoghurt microbiota: impact on egg production, protection and yolk-antibody and cholesterol levels

AIMS: This work aims at studying the impact of competitive exclusion of Salmonella serotype Enteritidis infection in layer chickens, by microbiota of fresh and dried-modified yoghurt, on egg production and weight, protection against infection, and on yolk-antibody and cholesterol levels. METHODS AND RESULTS: Four groups of 27-week-old layer chickens were included in this study. After an initial enrofloxacin treatment, groups 1 and 2 were administered fresh or dry yoghurt (respectively) for 14 days. Groups 1, 2 and 3 were challenged intraoesophageally with Salm. Enteritidis, on the sixth day of yoghurt administration, while group 4 was left unchallenged and without yoghurt administration. No significant difference in percent infectivity of visceral organs with Salm. Enteritidis was observed between the groups. The yoghurt administered groups showed an early significant antibody response in their yolk on the seventh day postchallenge (P < 0.05) and highest egg production and weight. Finally, the egg yolk cholesterol concentration was higher in Salm. Enteritidis-challenged groups than that observed in the unchallenged group. CONCLUSIONS: The results point to the possible involvement of yoghurt administration in immunopotentiation and improvement of egg production and weight. SIGNIFICANCE AND IMPACT OF THE STUDY: These findings warrant further research that could improve immunity and production in layer chickens infected with Salm. Enteritidis.