Identifying autism loci and genes by tracing recent shared ancestry   总被引：2，自引：0，他引：2  

Morrow EM  Yoo SY  Flavell SW  Kim TK  Lin Y  Hill RS  Mukaddes NM  Balkhy S  Gascon G  Hashmi A  Al-Saad S  Ware J  Joseph RM  Greenblatt R  Gleason D  Ertelt JA  Apse KA  Bodell A  Partlow JN  Barry B  Yao H  Markianos K  Ferland RJ  Greenberg ME  Walsh CA 《Science (New York, N.Y.)》2008,321(5886):218-223

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.  相似文献   

2008 Visualization Challenge winners     

Zelkowitz R 《Science (New York, N.Y.)》2008,321(5897):1768

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Statement on scientific publication and security     

Atlas R  Campbell P  Cozzarelli NR  Curfman G  Enquist L  Fink G  Flanagin A  Fletcher J  George E  Hammes G  Heyman D  Inglesby T  Kaplan S  Kennedy D  Krug J  Levinson R  Marcus E  Metzger H  Morse SS  O'Brien A  Onderdonk A  Poste G  Renault B  Rich R  Rosengard A  Salzburg S  Scanlan M  Shenk T  Tabor H  Varmus H  Wimmer E  Yamamoto K;Journal Editors  Authors Group 《Science (New York, N.Y.)》2003,299(5610):1149

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Paucity of genes on the Drosophila X chromosome showing male-biased expression     

Parisi M  Nuttall R  Naiman D  Bouffard G  Malley J  Andrews J  Eastman S  Oliver B 《Science (New York, N.Y.)》2003,299(5607):697-700

Sex chromosomes are primary determinants of sexual dimorphism in many organisms. These chromosomes are thought to arise via the divergence of an ancestral autosome pair and are almost certainly influenced by differing selection in males and females. Exploring how sex chromosomes differ from autosomes is highly amenable to genomic analysis. We examined global gene expression in Drosophila melanogaster and report a dramatic underrepresentation of X-chromosome genes showing high relative expression in males. Using comparative genomics, we find that these same X-chromosome genes are exceptionally poorly conserved in the mosquito Anopheles gambiae. These data indicate that the X chromosome is a disfavored location for genes selectively expressed in males.  相似文献   

Stone tools from mid-pleistocene sediments in java     

Jacob T  Soejono RP  Freeman LG  Brown FH 《Science (New York, N.Y.)》1978,202(4370):885-887

Two stone tools (a chopper and a retouched flake) were found in mid-Pleistocene channel fills at Sambungmachan (Java), which earlier yielded a hominid skull cap with characteristics of Solo man and a Trinil-like fauna. The artifacts are the first discovered in place in deposits on Java that are assigned to the mid-Pleistocene on faunal grounds.  相似文献   

Book review     

Jacob B. Cluff 《Agriculture and Human Values》2007,24(4):535-536

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Inquiry learning. Integrating content detail and critical reasoning by peer review     

Iyengar R  Diverse-Pierluissi MA  Jenkins SL  Chan AM  Devi LA  Sobie EA  Ting AT  Weinstein DC 《Science (New York, N.Y.)》2008,319(5867):1189-1190

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Single-cell mass cytometry of differential immune and drug responses across a human hematopoietic continuum     

Bendall SC  Simonds EF  Qiu P  Amir el-AD  Krutzik PO  Finck R  Bruggner RV  Melamed R  Trejo A  Ornatsky OI  Balderas RS  Plevritis SK  Sachs K  Pe'er D  Tanner SD  Nolan GP 《Science (New York, N.Y.)》2011,332(6030):687-696

Flow cytometry is an essential tool for dissecting the functional complexity of hematopoiesis. We used single-cell "mass cytometry" to examine healthy human bone marrow, measuring 34 parameters simultaneously in single cells (binding of 31 antibodies, viability, DNA content, and relative cell size). The signaling behavior of cell subsets spanning a defined hematopoietic hierarchy was monitored with 18 simultaneous markers of functional signaling states perturbed by a set of ex vivo stimuli and inhibitors. The data set allowed for an algorithmically driven assembly of related cell types defined by surface antigen expression, providing a superimposable map of cell signaling responses in combination with drug inhibition. Visualized in this manner, the analysis revealed previously unappreciated instances of both precise signaling responses that were bounded within conventionally defined cell subsets and more continuous phosphorylation responses that crossed cell population boundaries in unexpected manners yet tracked closely with cellular phenotype. Collectively, such single-cell analyses provide system-wide views of immune signaling in healthy human hematopoiesis, against which drug action and disease can be compared for mechanistic studies and pharmacologic intervention.  相似文献   

Physics. Plasmonics goes quantum     

Jacob Z  Shalaev VM 《Science (New York, N.Y.)》2011,334(6055):463-464

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Suspected epidural morphine analgesia induced chronic urinary and bowel dysfunction in a cat     

Song RB  Cross JR  Golder FJ  Callan MB 《Journal of Feline Medicine and Surgery》2011,13(8):602-605

A 12-year-old male castrated domestic shorthair developed chronic urinary retention, constipation and a decreased perineal reflex following a single lumbo-sacral epidural injection of morphine during general anesthesia. Similar adverse effects have been reported in humans following epidural analgesia, but this is the first reported case of both urinary and bowel dysfunction in a cat purportedly from an epidural. The cat was medically managed with manual bladder expressions, intermittent enemas, and various medications including bethanechol, cisapride and stool softeners. The cat continues to have long-term neurologic dysfunction 15 months post-onset. This case report describes a rare but serious potential risk of lumbo-sacral epidural injections in cats.  相似文献