排序方式: 共有35条查询结果,搜索用时 15 毫秒
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Rooryck C Diaz-Font A Osborn DP Chabchoub E Hernandez-Hernandez V Shamseldin H Kenny J Waters A Jenkins D Kaissi AA Leal GF Dallapiccola B Carnevale F Bitner-Glindzicz M Lees M Hennekam R Stanier P Burns AJ Peeters H Alkuraya FS Beales PL 《Nature genetics》2011,43(3):197-203
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively). CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney and vertebral bodies. Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities. Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. 相似文献
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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy 总被引:20,自引:0,他引:20
Zhang K Kniazeva M Han M Li W Yu Z Yang Z Li Y Metzker ML Allikmets R Zack DJ Kakuk LE Lagali PS Wong PW MacDonald IM Sieving PA Figueroa DJ Austin CP Gould RJ Ayyagari R Petrukhin K 《Nature genetics》2001,27(1):89-93
Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks. Genetic mapping data suggest that mutations in a single gene may be responsible for both conditions, already known to bear clinical resemblance. Here we limit the minimum genetic region for STGD3 and adMD to a 0.6-cM interval by recombination breakpoint mapping and identify a single 5-bp deletion within the protein-coding region of a new retinal photoreceptor-specific gene, ELOVL4, in all affected members of STGD3 and adMD families. Bioinformatic analysis of ELOVL4 revealed that it has homology to a group of yeast proteins that function in the biosynthesis of very long chain fatty acids. Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration. 相似文献
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MHC polymorphism pre-dating speciation 总被引:24,自引:0,他引:24
Two features distinguish the polymorphism of the major histocompatibility complex (MHC) loci from that of other loci: its high diversity and the large genetic distance between MHC alleles. More than 100 alleles exist in natural populations in the mouse at each of the functional class I and class II alleles, all alleles occurring at frequencies that cannot be explained by recurrent mutations. Some of the alleles differ by approximately 70 nucleotides in the coding region alone and some of the products of the allelic genes differ by more than 50 amino acids. It has generally been assumed that these differences accumulated after species inception. Here, we present evidence for an alternative explanation of the origin of MHC polymorphism: a large part of the MHC polymorphism pre-dates speciation and is passed on from species to species. We describe allelic differences that must have arisen before the separation of mice and rats from a common ancestor more than 10 million years ago. 相似文献
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Solana Abraham Christian Rodríguez Andrea Oviedo Gabriela Murúa 《Journal of Natural History》2018,52(23-24):1493-1508
While expulsion of male ejaculates by the females after copulation has been reported for various animal groups, expulsion followed by consumption of the expelled ejaculate is a rare behaviour outside spermatophylax-producing orthopterans. Among Diptera, this behaviour has been reported for a few species of Piophilidae, Empididae and Ulidiidae. Here we report on its occurrence among Euxesta eluta and Euxesta mazorca (Diptera: Ulidiidae). We also attempt to characterize the mating system of E. eluta in order to facilitate future hypothesis testing to understand the behavioural factors leading to the evolution of this peculiar behaviour. For this, courtship sequences, copulation duration, frequency of ejaculate expulsion and subsequent consumption, and latency to ejaculate expulsion for both E. eluta and E. mazorca were recorded. The time of sexual maturation, the time window of sexual receptivity during the day, and the mating frequency and variance in mating success for males and females (degree of polygamy) were determined for E. eluta. Both E. eluta and E. mazorca males engaged in elaborate courtship sequences involving visual and tactile displays before copulation. Females of both species almost invariably expelled and consumed ejaculates after copulation. Female E. eluta, required a 6- to 9-day period feeding on protein and sugar before becoming sexually receptive. Reproductive activity occurred continuously over the day with an early morning and late afternoon peak. Both males and females could mate multiply, with multiple partners over a 2-h observational period. Sexual network analysis revealed that some males and females had greater mating success than others. Ejaculate consumption appears to be widespread in the genus Euxesta. It is possible that females obtain nutrients from this behaviour while exerting some control over egg fertilization. 相似文献
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Gabriela Brumatti Marika Salmanidis Paul G. Ekert 《Cellular and molecular life sciences : CMLS》2010,67(10):1619-1630
Cytokines and growth factors play a crucial role in the maintenance of haematopoietic homeostasis. They transduce signals
that regulate the competing commitments of haematopoietic stem cells, quiescence or proliferation, retention of stem cell
pluripotency or differentiation, and survival or demise. When the balance between these commitments and the requirements of
the organisms is disturbed, particularly when it favours survival and proliferation, cancer may result. Cell death provoked
by loss of growth factor signalling is regulated by the Bcl-2 family of apoptosis regulators, and thus survival messages transduced
by growth factors must regulate the activity of these proteins. Many aspects of direct interactions between cytokine signalling
and regulation of apoptosis remain elusive. In this review, we explore the mechanisms by which cytokines, in particular Interleukin-3
and granulocyte–macrophage colony-stimulating factor, promote cell survival and suppress apoptosis as models of how cytokine
signalling and apoptotic pathways intersect. 相似文献