13 research outputs found

    Reconstructing Native American Population History

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    The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved1–5. One contentious issue is whether the settlement occurred via a single6–8 or multiple streams of migration from Siberia9–15. The pattern of dispersals within the Americas is also poorly understood. To address these questions at higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. We show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call “First American”. However, speakers of Eskimo-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan-speakers on both sides of the Panama Isthmus, who have ancestry from both North and South America

    Identification of Putative Ortholog Gene Blocks Involved in Gestant and Lactating Mammary Gland Development: A Rodent Cross-Species Microarray Transcriptomics Approach

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    The mammary gland (MG) undergoes functional and metabolic changes during the transition from pregnancy to lactation, possibly by regulation of conserved genes. The objective was to elucidate orthologous genes, chromosome clusters and putative conserved transcriptional modules during MG development. We analyzed expression of 22,000 transcripts using murine microarrays and RNA samples of MG from virgin, pregnant, and lactating rats by cross-species hybridization. We identified 521 transcripts differentially expressed; upregulated in early (78%) and midpregnancy (89%) and early lactation (64%), but downregulated in mid-lactation (61%). Putative orthologous genes were identified. We mapped the altered genes to orthologous chromosomal locations in human and mouse. Eighteen sets of conserved genes associated with key cellular functions were revealed and conserved transcription factor binding site search entailed possible coregulation among all eight block sets of genes. This study demonstrates that the use of heterologous array hybridization for screening of orthologous gene expression from rat revealed sets of conserved genes arranged in chromosomal order implicated in signaling pathways and functional ontology. Results demonstrate the utilization power of comparative genomics and prove the feasibility of using rodent microarrays to identification of putative coexpressed orthologous genes involved in the control of human mammary gland development

    Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration

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    Age-related macular degeneration (AMD) is the leading cause of central vision loss and severe blindness among the elderly population. Recently, we reported on the association of the SGCD gene (encoding for δ-sarcoglycan) polymorphisms with AMD. However, the functional consequence of Sgcd alterations in retinal degeneration is not known. Herein, we characterized changes in the retina of the Sgcd knocked-out mouse (KO, Sgcd−/−). At baseline, we analyzed the retina structure of three-month-old wild-type (WT, Sgcd+/+) and Sgcd−/− mice by hematoxylin and eosin (H&E) staining, assessed the Sgcd–protein complex (α-, β-, γ-, and ε-sarcoglycan, and sarcospan) by immunofluorescence (IF) and Western blot (WB), and performed electroretinography. Compared to the WT, Sgcd−/− mice are five times more likely to have retinal ruptures. Additionally, all the retinal layers are significantly thinner, more so in the inner plexiform layer (IPL). In addition, the number of nuclei in the KO versus the WT is ever so slightly increased. WT mice express Sgcd-protein partners in specific retinal layers, and as expected, KO mice have decreased or no protein expression, with a significant increase in the α subunit. At three months of age, there were no significant differences in the scotopic electroretinographic responses, regarding both a- and b-waves. According to our data, Sgcd−/− has a phenotype that is compatible with retinal degeneration

    [Correspondencia de Camilo Díaz Baliño] , 1917-1936

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    Mss. (algúns en fotocopia) autógrafo e mecanografiadoResumen: Correspondencia recibida por Camilo Díaz Baliño entre os anos 1917-1936 relacionada con asuntos persoais e laboraisBiblioteca de GaliciaForma de ingreso: Depósito. Fuente de ingreso: Díaz Pardo, Isaac. Fecha de ingreso: 2011. Propietario: Herdeiros de Isaac Díaz PardoDixitalización Telefónica-IDP 2012Contén : Cartas de: Manuel Abelenda (1 páx.) -- Cesar Alvarez (1 páx.) -- Carlos Amigo Collía (2 páxs.) -- Banco Hispano-Americano (2 páxs.) -- Alfonso Barreiro (3 páxs.) -- Eliseo Barros Gamallo (1 páx.),(2 páxs.) -- Ramón Beade (2 páxs.) -- Benito(2 páxs.) -- Fernando Blanco(1 páx.) -- José Bouzas y Cardama (1 páx.) -- Albino Bouzó Fernández (1 páx.),(2 páxs) -- José Cabada Vázquez (4 páxs.),(1 páx.),(1 páx.) --Salvador Cabeza (1 páx.) -- Antonio Carballa (1 páx.) -- Leandro y Euxenio Carré (2 páxs.) -- V. Carro (1 páx.) -- Santiago Casares (1 páx.) -- Alvaro Cebreiro (2 páxs.) -- Centro Gallego de Buenos Aires (1 páx.),(1 páx.) -- Compostela (2 páxs.) -- Manolo: Continental (2 páxs.) -- Coral de Ruada (1 páx.),(2 páxs.) -- Amando Cotarelo(1 páx.),(1 páx.) -- Eduardo Dorado Xaneiro (8 páx.) -- Círculo Mercantil e Idustrial: Ramón Fernández (1 páx.) --Virgilio Fernández(3 páxs.) -- Ramón Fernández Mato (2 páxs.) -- B. Ferreiro(1 páx.) -- Jenaro de la Fuente (1 páx.) -- Isaac Fraga: Espéctaculos Empresa Fraga (1 páx.),(1 páx.) -- Antonio Folgar Lema(1 páx.)--Alicio Garcitoral (1 páx.) -- Cándido González Raño (1 páx.) -- Daniel González Rodriguez (2 páxs.),(2 páxs.) -- Edurardo G.del Río (1 páx.) -- Hermanos Hernández (2 páxs.),(1 páx.),(1 páx.),(1 páx.) -- José Iglesias Sánchez (2 páxs.) -- Irmandades da Fala (1 páx.) -- José Silva? (2 páxs.) -- Arturo Longa (1 páx.) -- Casimiro López (1 páx.) -- Edmundo López (1 páx.),(1 páx.) -- Eduardo R. Losada y Rebellón (2 páx.) -- Carlos Maside (1 páx.) -- Enrique Mayer (1 páx.) -- Antonio Méndez Laserna (1 páx.) -- Anselmo Padín (1 páx.) -- Xavier Pardo (1 páx.) -- Partido Republicano Radical Socialista (1 páx.) -- Pérez Bustamante (1 páx.) -- Modesto Piñeiro (2 páxs.) -- Salustiano Portela (2 páxs.) -- José Seijo Rubio (2 páxs.) -- Suarez Picallo (2 páxs.) -- Luis Losada (1 páx), (1 páx.) -- Ricardo Valdés (2 páxs.),(2 páxs.),(2 páxs.),(1 páx.) -- A.Nilo Varela (1 páx.),(2 páxs.),(2 páxs.) -- Juan Varela de Limia (1 páx.) -- Victorino? Varela (1 páx.) -- Jesús Varela (3 páxs.) -- F.Vázquez Suarez (1 páx.) -- Santiago Vidal Gimeno (1 páx.) -- Pedro Vieitez (1 páx.) -- M. Villar (2 páxs.) -- Anónima (1 páx.) -- Anónima (1 páx.

    Associated factors to serious infections in a large cohort of juvenile-onset systemic lupus erythematosus from Lupus Registry (RELESSER).

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    To assess the incidence of serious infection (SI) and associated factors in a large juvenile-onset systemic lupus erythematosus (jSLE) retrospective cohort. All patients in the Spanish Rheumatology Society Lupus Registry (RELESSER) who meet ≥4 ACR-97 SLE criteria and disease onset A total of 353 jSLE patients were included: 88.7% female, 14.3 years (± 2.9) of age at diagnosis, 16.0 years (± 9.3) of disease duration and 31.5 years (±10.5) at end of follow-up. A total of 104 (29.5%) patients suffered 205 SI (1, 55.8%; 2-5, 38.4%; and ≥6, 5.8%). Incidence rate was 3.7 (95%CI: 3.2-4.2) SI per 100 patient years. Respiratory location and bacterial infections were the most frequent. Higher number of SLE classification criteria, SLICC/ACR DI score and immunosuppressants use were associated to the presence of SI. Associated factors to shorter time to first infection were higher number of SLE criteria, splenectomy and immunosuppressants use. The risk of SI in jSLE patients is significant and higher than aSLE. It is associated to higher number of SLE criteria, damage accrual, some immunosuppressants and splenectomy
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