No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation.

BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Although no protein coding gene defects have been reported in SRS patients, approximately 50% of SRS patients carry epimutations (hypomethylation) at the IGF2/H19 imprinting control region 1 (ICR1). Proper methylation at ICR1 is crucial for the imprinted expression of IGF2, a fetal growth factor. CTCFL, a testis-specific protein, has recently been proposed to play a role in the establishment of DNA methylation at the murine equivalent of ICR1. A screen was undertaken to assess whether CTCFL is mutated in SRS patients with hypomethylation, to explore a link between the observed epimutations and a genetic cause of the disease. METHODOLOGY/PRINCIPAL FINDINGS: DNA was obtained from 36 SRS patients with hypomethylation at ICR1. All CTCFL coding exons were sequenced and analyzed for duplications/deletions using both multiplex ligation-dependent probe amplification, with a custom CTCFL probe set, and genomic qPCR. Novel SNP alleles were analyzed for potential differential splicing in vitro utilizing a splicing assay. Neither mutations of CTCFL nor duplications/deletions were observed. Five novel SNPs were identified and have been submitted to dbSNP. In silico splice prediction suggested one novel SNP, IVS2-66A>C, activated a cryptic splice site, resulting in aberrant splicing and premature termination. In vitro splicing assays did not confirm predicted aberrant splicing. CONCLUSIONS/SIGNIFICANCE: As no mutations were detected at CTCFL in the patients examined, we conclude that genetic alterations of CTCFL are not responsible for the SRS hypomethylation. We suggest that analysis of other genes involved in the establishment of DNA methylation at imprinted genes, such as DNMT3A and DNMT3L, may provide insight into the genetic cause of hypomethylation in SRS patients.

El mapa topográfico del Protectorado de Marruecos en su contexto político e institucional (1923-1940)

Durante los años veinte, tras una profunda reorganización de los servicios cartográficos del Estado, la dictadura de Primo de Rivera encargó al Depósito de la Guerra la formación de un mapa topográfico del Protectorado español de Marruecos a escala 1:50. 000. El levantamiento de la carta marroquí se realizó simultáneamente a otras operaciones cartográficas en las islas Canarias, el norte de África y la Península. Este artículo estudia la formación del mapa de Marruecos, prestando especial atención a su contexto geopolítico e institucional. La carta marroquí abrió una nueva etapa en la militarización de la cartografía topográfica española. La consulta de fuentes archivísticas ha permitido reconstruir la trayectoria profesional de sus artífices.

Literature of pioneer life in Iowa, 1923

Contains history and a bibliography of books and pamphlets written about frontier and pioneer life in the midwest.

Condition of the State of Iowa, 1923 (40th General Assembly)

A transcript of the Condition of the State of Iowa speech by Governor Kendall delivered at the State Capitol.

Governor's Inaugural Address, 1923 (40th General Assembly)

A transcript of the Governor's Inaugural Address by Governor Kendell.

Entre Fanny i Aloma : Personatges femenins en l'època de la represa de la novel·la (1923-1939)

Anàlisi dels personatges femenins construïts en sis novel·les representatives de l'època de la represa de la novel·la a Catalunya (1923-1939), tot remarcant si hi podem reconèixer trets socials o històrics de l'època, si hi observem trets feministes, i també observant com els tractaven o enfocaven els seus autors.

L'Anatomia artística a l"Escola de Belles Arts de Barcelona. Els casos de Jeroni Faraudo (1823-1886) i de Tiberio Ávila (1843-1932)

[cat] Aquest article se centra en la significació i transcendència de l"assignatura d"Anatomia artística a l"Escola de Belles Arts de Barcelona durant la segona meitat del segle XIX i principis de segle XX. S"empren, com a fil conductor, les figures de Jeroni Faraudo i Condeminas (1823-1886) i de Tiberio Ávila Rodríguez (1843-1932), els dos primers professors que impartiren la matèria i que romanen, en l"actualitat, pràcticament inèdits. El coneixement de l"ideari de Faraudo i d"Ávila permet completar el panorama de l"evolució de les idees estètiques a la Catalunya del moment i, alhora, contribueix a la comprensió de l"erosió de la primacia de l"antic en l"aprenentatge oficial de les arts a Catalunya. [spa] Este artículo se centra en la significación y transcendencia de la asignatura de Anatomía artística en la Escuela de Bellas Artes de Barcelona durante la segunda mitad del siglo XIX y principios de siglo XX. Se emplean, como hilo conductor, las figuras de Gerónimo Faraudo Condeminas (1823-1886) y de Tiberio Ávila Rodríguez (1843-1932), los dos primeros profesores que impartieron la materia y que permanecen, en la actualidad, prácticamente inéditos. El conocimiento del ideario de Faraudo y de Ávila permite completar el panorama de la evolución de las ideas estéticas en la Cataluña del momento y, al mismo tiempo, contribuye a la comprensión de la erosión de la primacía del antiguo en el aprendizaje oficial de las artes en Cataluña. [eng]This article focuses on the subject of Artistic Anatomy at the Barcelona School of Fine Arts during the second half of the 19th and early 20th centuries, discussing its signification. The connecting thread of this article are Jeroni Faraudo i Condeminas (1823-1886) and Tiberio Ávila Rodríguez (1843-1932), its first two teachers, who remain nowadays practically unknown. The knowledge of their ideas completes the history of contemporary Catalan aesthetics and also contributes to the comprehension of the erosion in the primacy of the use of ancient models in the official artistic teaching in Catalonia.