Derivation of a minimal functional XIST by combining human and mouse interaction domains.

X-inactive specific transcript (XIST) is a 17-19 kb long non-coding ribonucleic acid (RNA) critical for X-chromosome inactivation. Tandem repeats within the RNA serve as functional domains involved in the cis-limited recruitment of heterochromatic changes and silencing. To explore the sufficiency of these domains while generating a functional mini-XIST for targeted silencing approaches, we tested inducible constructs integrated into 8p in a male cell line. Previous results suggested silencing could be accomplished with a transgene comprised of the repeat A, which is highly conserved and critical for silencing; the repeat F that overlaps regulatory elements and the repeat E that contributes to XIST localization by binding proteins such as CIZ1 (AFE). As polycomb-repressive complex 1 (PRC1) is recruited through HNRNPK binding of repeats B-C-D, we included a second 'mini-XIST' comprising AFE with the mouse Polycomb Interaction Domain (PID), a 660-nucleotide region known to recruit PRC1. Silencing of an adjacent gene was possible with and without PID; however, silencing more distally required the addition of PID. The recruitment of heterochromatic marks, evaluated by immunofluorescence combined with RNA fluorescence in situ hybridization, revealed that the AFE domains were sufficient only for CIZ1 recruitment. However, mini-XIST transgene recruited all marks, albeit not to full XIST levels. The ability of the PID domain to facilitate silencing and heterochromatic mark recruitment was unexpected, and inhibition of PRC1 suggested that many of these are PRC1 independent. These results suggest that the addition of this small region allowed the partial recruitment of all the features induced by a full XIST, demonstrating the feasibility of finding a minimal functional XIST.

Incidencia de diabetes mellitus en el personal de salud y antecedentes patológicos familiares / Incidence of diabetes mellitus in healthcare personnel and familypathological history

Introducción: En la diabetes mellitus hay interacción defactores genéticos y metabólicos y se incrementa cuando seconjugan otros antecedentes.Objetivo: Determinar la correlación entre los anteceden-tes patológicos familiares e incidencia de diabetes. Métodos: Estudio epidemiológico transversal de 191 tra-bajadores, se excluyó los que presentaron diagnóstico de dia-betes mellitus. Se adaptó el cuestionario Tuomilehto yLindström y se realizó correlación Rho de Spearman con elprograma IBM-SPSS vs 27. Resultados: El riesgo de desarrollar diabetes con antece-dentes patológicos familiares fue 0.615 (p<0.001); personaladministrativo 0.684 (p<0.001) y asistenciales 0.604(p<0.001), con actividad física 0.583 (p<0.001) y los que no0.661 (p<0.001); según el IMC, con sobrepeso, 0.657(p<0.001) y obesidad, 0.411 (p<0.001). En varones asisten-ciales con actividad física es 0.701 (p<0.001) y aumenta a0.709 (p=0.001) con sobrepeso, en las mujeres administrati-vas 0.674 (p<0.001), se incrementa a 0.816 (p=0.001) consobrepeso. Conclusión: Existe correlación entre los antecedentes pa-tológicos familiares e incidencia a diabetes, siendo mayor enel personal con sobrepeso.(AU)

Background: In diabetes mellitus there is an interactionbetween genetic and metabolic factors, and it increases whenother antecedents are combined. Objective: To determine the correlation between familypathological history and incidence of diabetes.Methods: Cross-sectional epidemiological study of 191workers, those with a diagnosis of diabetes mellitus wereexcluded. The Tuomilehto and Lindström questionnaire wasadapted and Spearman’s Rho correlation was performed withthe IBM-SPSS vs 27 program. Results: The risk of developing diabetes with familypathological history was 0.615 (p<0.001); administrative per-sonnel 0.684 (p<0.001) and assistants 0.604 (p<0.001), with physical activity 0.583 (p<0.001) and those who did not 0.661(p<0.001); according to BMI, with overweight, 0.657 (p<0.001)and obesity, 0.411 (p<0.001). In male assistants with physicalactivity 0.701 (p<0.001), and increase to 0.709 (p=0.001) ifoverweight, in administrative women 0.674 (p<0.001), thisvalue increases to 0.816 (p=0.001) when overweight. Conclusions: There is a correlation between familypathological history and incidence of diabetes, with a greaterinfluence on overweight health personnel.(AU)

Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.

One of the two X chromosomes in females is epigenetically inactivated, thereby compensating for the dosage difference in X-linked genes between XX females and XY males. Not all X-linked genes are completely inactivated, however, with 12% of genes escaping X chromosome inactivation and another 15% of genes varying in their X chromosome inactivation status across individuals, tissues or cells. Expression of these genes from the second and otherwise inactive X chromosome may underlie sex differences between males and females, and feature in many of the symptoms of XXY Klinefelter males, who have both an inactive X and a Y chromosome. We review the approaches used to identify genes that escape from X-chromosome inactivation and discuss the nature of their sex-biased expression. These genes are enriched on the short arm of the X chromosome, and, in addition to genes in the pseudoautosomal regions, include genes with and without Y-chromosomal counterparts. We highlight candidate escape genes for some of the features of Klinefelter syndrome and discuss our current understanding of the mechanisms underlying silencing and escape on the X chromosome as well as additional differences between the X in males and females that may contribute to Klinefelter syndrome.

Identification of potential candidate genes controlling pea aphid tolerance in a Pisum fulvum high-density integrated DArTseq SNP-based genetic map.

BACKGROUND: Pea (Pisum sativum) is one of the most important temperate grain legumes in the world, and its production is severely constrained by the pea aphid (Acyrthosiphon pisum). Wild relatives, such as P. fulvum, are valuable sources of allelic diversity to improve the genetic resistance of cultivated pea species against A. pisum attack. To unravel the genetic control underlying resistance to the pea aphid attack, a quantitative trait loci (QTL) analysis was performed using the previously developed high density integrated genetic linkage map originated from an intraspecific recombinant inbred line (RIL) population (P. fulvum: IFPI3260 × IFPI3251). RESULTS: We accurately evaluated specific resistance responses to pea aphid that allowed the identification, for the first time, of genomic regions that control plant damage and aphid reproduction. Eight QTLs associated with tolerance to pea aphid were identified in LGs I, II, III, IV and V, which individually explained from 17.0% to 51.2% of the phenotypic variation depending on the trait scored, and as a whole from 17.0% to 88.6%. The high density integrated genetic linkage map also allowed the identification of potential candidate genes co-located with the QTLs identified. CONCLUSIONS: Our work shows how the survival of P. fulvum after the pea aphid attack depends on the triggering of a multi-component protection strategy that implies a quantitative tolerance. The genomic regions associated with the tolerance responses of P. fulvum during A. pisum infestation have provided six potential candidate genes that could be useful in marker-assisted selection (MAS) and genomic assisted breeding (GAB) after functional validation in the future. © 2019 Society of Chemical Industry.

Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.

BACKGROUND: The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y chromosome; these events primarily involve the heterochromatic region, but may extend to euchromatic Yq segments containing azoospermia factor regions. CASE PRESENTATION: We describe the occurrence of two independent chromosomal rearrangements that originated as de novo events in a single male patient: a 10.8-Mb duplication of 17p11.2p12 and a 14.7-Mb deletion of Yq11. This individual shares some clinical characteristics with previously described patients having one or the other of these rearrangements, including global developmental delay, short stature, hypotonia, delayed puberty, certain facial features and a generalized demyelinating sensory-motor polyneuropathy without clinical manifestation. Our patient also presents some features that were not previously described in relevant individuals, including camptodactyly, preauricular pits and hypertrichosis of the back and elbows. CONCLUSIONS: To our knowledge, this is the first patient to be reported with independent de novo deletion/duplication events involving chromosomes 17 and Y. We discuss possible responsible mechanisms and address the phenotype, particularly in light of the clinical features that were not previously reported for patients bearing a duplication of 17p11.2p12 or a deletion of Yq11. We suggest that some of the previously reported patients with Yq11 deletion and clinical manifestations other than male infertility may have additional chromosomal imbalances that could be identified by chromosome microarray analysis, as illustrated by the present case.

Clarification on Host Range of Didymella pinodes the Causal Agent of Pea Ascochyta Blight.

Didymella pinodes is the principal causal agent of ascochyta blight, one of the most important fungal diseases of pea (Pisum sativum) worldwide. Understanding its host specificity has crucial implications in epidemiology and management; however, this has not been clearly delineated yet. In this study we attempt to clarify the host range of D. pinodes and to compare it with that of other close Didymella spp. D. pinodes was very virulent on pea accessions, although differences in virulence were identified among isolates. On the contrary, studied isolates of D. fabae, D. rabiei, and D. lentil showed a reduced ability to infect pea not causing macroscopically visible symptoms on any of the pea accessions tested. D. pinodes isolates were also infective to some extend on almost all species tested including species such as Hedysarum coronarium, Lathyrus sativus, Lupinus albus, Medicago spp., Trifolium spp., Trigonella foenum-graecum, and Vicia articulata which were not mentioned before as hosts of D. pinodes. On the contrary, D. lentil and D. rabiei were more specific, infecting only lentil and chickpea, respectively. D. fabae was intermediate, infecting mainly faba bean, but also slightly other species such as Glycine max, Phaseolus vulgaris, Trifolium spp., Vicia sativa, and V. articulata. DNA sequence analysis of the nuclear ribosomal internal transcribed spacer region (ITS) was performed to confirm identity of the isolates studies and to determine phylogenetic relationship among the Didymella species, revealing the presence of two clearly distinct clades. Clade one was represented by two supported subclusters including D. fabae isolates as well as D. rabiei with D. lentil isolates. Clade two was the largest and included all the D. pinodes isolates as well as Phoma medicaginis var. pinodella. Genetic distance between D. pinodes and the other Didymella spp. isolates was not correlated with overall differences in pathogenicity. Based on evidences presented here, D. pinodes is not specialized on pea and its host range is larger than that of D. fabae, D. lentil, and D. rabiei. This has relevant implications in epidemiology and control as these species might act as alternative hosts for D. pinodes.

Gingivitis de células plasmáticas / No disponible

La gingivitis de células plasmáticas es una rara entidad de tipo benigno, caracterizada por una infiltración de células plasmáticas en los tejidos subepiteliales de las encías. La causa no está aún descrita, aunque se plantea la intervención de diferentes agentes, que provoquen una reacción del sistema inmune, con resultado de autolesión. El caso que exponemos se trata de una mujer de 54 años, con lesiones gingivales, cuyo examen histológico reveló infiltrado de células plasmáticas en la lámina propia, elongaciones de crestas, espongiosis epitelial, exocitosis, cuerpos apoptóticos y cuerpos de Russell. Las pruebas de reacción cutáneas fueron positivas para laisotiazodinona (kathon o katón). La paciente presentaba también una hiposecreción salival severa, que provocó una parotiditis aguda supurativa, problema por el que se nos remitió (AU)

Plasma cells gingivitis is a rare benign entity, characterized by an infiltration of plasma cells in the subepithelials tissues of the gums. The etiology is not still described, although the intervention of different factors comes into question, as a cause of an immune reaction with result of self-inflicted injury. Our patient is a 54 years old woman, with gingival injuries, whose histological exam shows plasma cells in the lamina propria, elongations of crests, epithelial espongiosis, exocitosis, apoptotic bodies and Russell’s bodies. The skin tests were positive to the isotiazodinone (Kathon). The patient was showing also a salivary severe hiposecretion, that was the origin of an intensesuppurative parotiditis, problem by which she was send to us (AU)