Genetics of pituitary adenomas

in Médecine Clinique Endocrinologie & Diabète (2012)

The genetics of pituitary adenomas

in Best Practice & Research. Clinical Endocrinology & Metabolism (2010), 24(3), 461-76

Pituitary adenomas are one of the most frequent intracranial tumors with a prevalence of clinically-apparent tumors close to 1:1000 of the general population. They are clinically significant beause of ... [more ▼]

Pituitary adenomas are one of the most frequent intracranial tumors with a prevalence of clinically-apparent tumors close to 1:1000 of the general population. They are clinically significant beause of hormone overproduction and/or tumor mass effects in addition to the need for neurosurgery medical therapies and radiotherapy. The majority of pituitary adenomas have a sporadic origin with recognized genetic mutations seldom being found; somatotropinomas are an exception, presenting frequent somatic GNAS mutations. In this and other phenotypes, tumorigenesis could possibly be explained by altered function of genes implicated in cell cycle regulation, growth factors or their receptors, cell-signaling pathways, specific hormonal factors or other molecules with still unclear mechanisms of action. Genetic changes, such as allelic loss or gene amplification, and epigenetic changes, usually by promoter methylation, have been implicated in abnormal gene expression, but alternative mechanisms may be present. Familial cases of pituitary adenomas represent 5% of all pituitary tumors. MEN1 mutations cause multiple endocrine neoplasia type 1 (MEN1), while the Carney complex (CNC) is charcaterized by mutations in the protein kinase A regulatory subunit-1alpha (PRKAR1A) gene or changes in a locus at 2p16. Recently, a MEN1-like conditions, MEN4, was found to be related to mutations in the CDKN1B gene. The clinical entity of familialt isolated pituitary adenomas (FIPA) is characterized by genetic defects in the aryl hydrocarbon receptor interacting protein (AIP) gene in about 15% of all kindreds and 50% of homogenous somatotropinoma families. Identification of familial cases of pituitary adenomas is important as these tumors may be more aggressive than their sporadic counterparts. [less ▲]

Genetics of the mid-infrared predicted lactoferrin content in milk of dairy cows

in Book of Astracts of the 63rd Annual Meeting of the European Federation of Animal Science (2012)

Genetics of the mid-infrared prediction of lactoferrin content in milk for Holstein first-parity cows

Conference (2012)

Genetics of the mineral contents in bovine milk predicted by mid-infrared spectrometry

in Book of Abstracts of the 63rd Annual Meeting of the European Federation of Animal Science (2012, August)

Knowing the contents of minerals in milk like Ca or Na could be interesting to improve the nutritional quality of milk and to assess the animal health status. This study had two aims: 1) development of ... [more ▼]

Knowing the contents of minerals in milk like Ca or Na could be interesting to improve the nutritional quality of milk and to assess the animal health status. This study had two aims: 1) development of mid-infrared equations for mineral contents in milk by using an approach combining multiple countries, breeds, and production systems and 2) study of the genetic variability of these traits in the Walloon Holstein dairy cattle. Samples included in the calibration set were collected in Belgium, Luxembourg and France over 5 years. The calibration set included at least 400 samples analyzed by coupled plasma atomic emission spectrometry to quantify the contents of Na, Ca, Mg, P and K. The calibration coefficient of determination ranged between 0.69 for K and 0.93 for Na. The standard error of cross-validation was 63.35, 49.24, 64.33, 7.04, and 93.22 mg/kg of milk for Na, Ca, P, Mg and K. From these results, the quantification of milk minerals by mid-infrared is feasible. These equations were applied to more than 140,000 spectral records collected from 43,797 first parity Holstein cows in 1,233 herds. The variance components were estimated using Gibbs Sampling using single trait random regression models derived from the one used for the Walloon genetic evaluation of milk production traits. First results gave a daily heritability of 0.26 for Na, 0.45 for Ca, 0.48 for P, 0.46 for Mg, and 0.41 for K. Moderate negative genetic correlations were found between Na and the other studied traits. The highest correlation (0.69) was observed between P and Mg. These results confirmed the genetic variability of these traits. Further studies will be conducted to study the relationship between these traits and other traits (e.g., production, health). [less ▲]

Genetics of ulcerative colitis: the come-back of interleukin 10.

in Gut (2009), 58(9), 1173-6

Génétique de la neuropathie laryngée récurrente chez le cheval

Doctoral thesis (2011)

Recurrent laryngeal neuropathy (RLN), known as « roaring » or « whistling », has been considered as the most important equine airway disease of the horse. It can cause abnormal respiratory noise during ... [more ▼]

Recurrent laryngeal neuropathy (RLN), known as « roaring » or « whistling », has been considered as the most important equine airway disease of the horse. It can cause abnormal respiratory noise during fast exercise, secondary to a reduced abduction of the left arytenoid cartilage, which may impair performance. Despite significant research into the disease, some aspects, such as etiology and pathogenesis, remain unknown. Several papers suggest a genetic basis but molecular studies have never been reported. Using the EquineSNP50 Beadchip, we genotyped 234 cases (196 Warmbloods, 20 Trotters, 14 Thoroughbreds and 4 Draft Horses), 228 breed-matched controls and 69 parents. Linkage disequilibrium and population structure were quantified before performing single marker and haplotype-based association studies, as well as family-based linkage analyses. Two genome-wide suggestive loci were identified on chromosomes 21 and 31, driven by the enrichment of a “protective” haplotype in controls compared to cases. Our study indicates that predisposition to RLN has a complex determinism, probably involving a high number of genes, of which the candidates on chromosome 21 and 31 may have the largest effects. We performed a copy-number variants analysis on the same data. After characterization of the regions harbouring these variants, an association study with RLN was conducted. A duplication on chromosome 10 was identified in ten affected horses and two unphenotyped parents that were sharing a long haplotype. This work provides novel insights in the genetic determinism of NLR and opens new field of research. If the genuine nature of these loci is confirmed in independent cohorts, identifying the causative genes may increase our understanding of RLN pathogenesis. Assuming that RLN is very polygenic, predictive diagnosis and selection may be more effective using a genomic selection type of approach. [less ▲]

Génétique des Néoplasies Endocriniennes Multiples de type 1

Scientific conference (1999, January 16)

Génétique moléculaire des récepteurs olfactifs

in Medecine Sciences : M/S (1994), 10

Les gènes codant pour les récepteurs olfactifs ont été isolés à partir d'une banque d'ADNc de la muqueuse olfactive. Ils constituent une famille très étendue (plusieurs centaines de gènes) codant pour des ... [more ▼]

Les gènes codant pour les récepteurs olfactifs ont été isolés à partir d'une banque d'ADNc de la muqueuse olfactive. Ils constituent une famille très étendue (plusieurs centaines de gènes) codant pour des récepteurs à sept passages transmembranaires couplés, par l'intermédiaire de protéines G, à l'activation de l'adénylyl cyclase et de la phospholipase C. La grande diversité des récepteurs olfactifs réside surtout dans les domaines transmembranaires III, IV, V et VI, qui portent les sites de liaison des ligands, les molécules odorantes, et répond sans doute à la diversité des ligands [less ▲]

Geneva photometry of HDE 318107 (Manfroid+, 2000)

Report (2000)

File table1 contains the individual photometric measurements of HDE 318107 in the Geneva system. (1 data file).