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991.
Kalscheuer VM Freude K Musante L Jensen LR Yntema HG Gécz J Sefiani A Hoffmann K Moser B Haas S Gurok U Haesler S Aranda B Nshedjan A Tzschach A Hartmann N Roloff TC Shoichet S Hagens O Tao J Van Bokhoven H Turner G Chelly J Moraine C Fryns JP Nuber U Hoeltzenbein M Scharff C Scherthan H Lenzner S Hamel BC Schweiger S Ropers HH 《Nature genetics》2003,35(4):313-315
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder. 相似文献
992.
993.
Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis 总被引:21,自引:0,他引:21
Muckenthaler M Roy CN Custodio AO Miñana B deGraaf J Montross LK Andrews NC Hentze MW 《Nature genetics》2003,34(1):102-107
Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect to a null allele of Hfe (Hfe-/-) or homozygous with respect to the orthologous 882G-->A mutation (Hfe(845A/845A)) develop iron overload that recapitulates hereditary hemochromatosis in humans, confirming that hereditary hemochromatosis arises from loss of HFE function. Much work has focused on an exclusive role for the intestine in hereditary hemochromatosis. HFE deficiency in intestinal crypt cells is thought to cause intestinal iron deficiency and greater expression of iron transporters such as SLC11A2 (also called DMT1, DCT1 and NRAMP2) and SLC11A3 (also called IREG1, ferroportin and MTP1; ref. 3). Published data on the expression of these transporters in the duodenum of HFE-deficient mice and humans are contradictory. In this report, we used a custom microarray to assay changes in duodenal and hepatic gene expression in Hfe-deficient mice. We found unexpected alterations in the expression of Slc39a1 (mouse ortholog of SLC11A3) and Cybrd1, which encode key iron transport proteins, and Hamp (hepcidin antimicrobial peptide), a hepatic regulator of iron transport. We propose that inappropriate regulatory cues from the liver underlie greater duodenal iron absorption, possibly involving the ferric reductase Cybrd1. 相似文献
994.
Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia 总被引:3,自引:0,他引:3
Pollock PM Cohen-Solal K Sood R Namkoong J Martino JJ Koganti A Zhu H Robbins C Makalowska I Shin SS Marin Y Roberts KG Yudt LM Chen A Cheng J Incao A Pinkett HW Graham CL Dunn K Crespo-Carbone SM Mackason KR Ryan KB Sinsimer D Goydos J Reuhl KR Eckhaus M Meltzer PS Pavan WJ Trent JM Chen S 《Nature genetics》2003,34(1):108-112
995.
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans 总被引:18,自引:0,他引:18
Robertson SP Twigg SR Sutherland-Smith AJ Biancalana V Gorlin RJ Horn D Kenwrick SJ Kim CA Morava E Newbury-Ecob R Orstavik KH Quarrell OW Schwartz CE Shears DJ Suri M Kendrick-Jones J Wilkie AO;OPD-spectrum Disorders Clinical Collaborative Group 《Nature genetics》2003,33(4):487-491
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). Several mutations are recurrent, and all are clustered into four regions of the gene: the actin-binding domain and rod domain repeats 3, 10 and 14/15. Our findings contrast with previous observations that loss of function of FLNA is embryonic lethal in males but manifests in females as a localized neuronal migration disorder, called periventricular nodular heterotopia (PVNH; refs. 3-6). The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development. 相似文献
996.
Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene 总被引:18,自引:0,他引:18
Seitz H Youngson N Lin SP Dalbert S Paulsen M Bachellerie JP Ferguson-Smith AC Cavaillé J 《Nature genetics》2003,34(3):261-262
MicroRNAs (miRNAs) are an abundant class of RNAs that are approximately 21-25 nucleotides (nt) long, interact with mRNAs and trigger either translation repression or RNA cleavage (RNA interference, RNAi) depending on the degree of complementarity with their targets. Here we show that the imprinted mouse distal chromosome 12 locus encodes two miRNA genes expressed from the maternally inherited chromosome and antisense to a retrotransposon-like gene (Rtl1) expressed only from the paternal allele. 相似文献
997.
Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity 总被引:13,自引:0,他引:13
Neuropathy target esterase (NTE) is involved in neural development and is the target for neurodegeneration induced by selected organophosphorus pesticides and chemical warfare agents. We generated mice with disruptions in Nte, the gene encoding NTE. Nte(-/-) mice die after embryonic day 8, and Nte(+/-) mice have lower activity of Nte in the brain and higher mortality when exposed to the Nte-inhibiting compound ethyl octylphosphonofluoridate (EOPF) than do wild-type mice. Nte(+/-) and wild-type mice treated with 1 mg per kg of body weight of EOPF have elevated motor activity, showing that even minor reduction of Nte activity leads to hyperactivity. These studies show that genetic or chemical reduction of Nte activity results in a neurological phenotype of hyperactivity in mammals and indicate that EOPF toxicity occurs directly through inhibition of Nte without the requirement for Nte gain of function or aging. 相似文献
998.
Burgay M D'Amico N Possenti A Manchester RN Lyne AG Joshi BC McLaughlin MA Kramer M Sarkissian JM Camilo F Kalogera V Kim C Lorimer DR 《Nature》2003,426(6966):531-533
The merger of close binary systems containing two neutron stars should produce a burst of gravitational waves, as predicted by the theory of general relativity. A reliable estimate of the double-neutron-star merger rate in the Galaxy is crucial in order to predict whether current gravity wave detectors will be successful in detecting such bursts. Present estimates of this rate are rather low, because we know of only a few double-neutron-star binaries with merger times less than the age of the Universe. Here we report the discovery of a 22-ms pulsar, PSR J0737-3039, which is a member of a highly relativistic double-neutron-star binary with an orbital period of 2.4 hours. This system will merge in about 85 Myr, a time much shorter than for any other known neutron-star binary. Together with the relatively low radio luminosity of PSR J0737-3039, this timescale implies an order-of-magnitude increase in the predicted merger rate for double-neutron-star systems in our Galaxy (and in the rest of the Universe). 相似文献
999.
Price PA Fox DW Kulkarni SR Peterson BA Schmidt BP Soderberg AM Yost SA Berger E Djorgovski SG Frail DA Harrison FA Sari R Blain AW Chapman SC 《Nature》2003,423(6942):844-847
Past studies of cosmological gamma-ray bursts (GRBs) have been hampered by their extreme distances, resulting in faint afterglows. A nearby GRB could potentially shed much light on the origin of these events, but GRBs with a redshift z 相似文献
1000.
Somatosensory basis of speech production 总被引:1,自引:0,他引:1
The hypothesis that speech goals are defined acoustically and maintained by auditory feedback is a central idea in speech production research. An alternative proposal is that speech production is organized in terms of control signals that subserve movements and associated vocal-tract configurations. Indeed, the capacity for intelligible speech by deaf speakers suggests that somatosensory inputs related to movement play a role in speech production-but studies that might have documented a somatosensory component have been equivocal. For example, mechanical perturbations that have altered somatosensory feedback have simultaneously altered acoustics. Hence, any adaptation observed under these conditions may have been a consequence of acoustic change. Here we show that somatosensory information on its own is fundamental to the achievement of speech movements. This demonstration involves a dissociation of somatosensory and auditory feedback during speech production. Over time, subjects correct for the effects of a complex mechanical load that alters jaw movements (and hence somatosensory feedback), but which has no measurable or perceptible effect on acoustic output. The findings indicate that the positions of speech articulators and associated somatosensory inputs constitute a goal of speech movements that is wholly separate from the sounds produced. 相似文献