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41.
Phagocytosis by pigment epithelium of human retinal cones 总被引:2,自引:0,他引:2
R H Steinberg 《Nature》1974,252(5481):305-307
42.
Isolation of a cDNA clone corresponding to an X-linked gene family (XLR) closely linked to the murine immunodeficiency disorder xid 总被引:1,自引:0,他引:1
D I Cohen S M Hedrick E A Nielsen P D'Eustachio F Ruddle A D Steinberg W E Paul M M Davis 《Nature》1985,314(6009):369-372
The striking number of human and murine immunodeficiency disorders which map to the X chromosome suggests that genes localized on this chromosome must have important roles in lymphocyte development. At least seven distinct disorders in the human and two in the mouse disrupt lymphocyte maturation, particularly that of B cells, at characteristic stages. As functional genes mapping to the X chromosome in one mammal are found on the X chromosome in all other mammals, the same genes regulating lymphocyte development are expected to be found on the X chromosome in mouse and man. Investigations into the possible mechanisms of these X-linked disorders have been hampered by the lack of molecular probes for the genes or gene products affected; because of this, and the possibility of correlating one or more of the several hundred B- or T-cell-specific genes with a specific mutation, we surveyed 15 different B- and T-cell-specific cDNA clones for localization to the X chromosome. We report here the characterization of one of these murine cDNA clones, which hybridizes with a large, X-linked gene family, designated XLR (X-linked, lymphocyte-regulated). We show that the XLR gene family is closely linked to the X-linked immunodeficiency described in the CBA/N mouse strain (xid), by restriction fragment length polymorphism (RFLP) analysis of DNA from mice congeneic for xid. This finding, together with data on the expression of the XLR locus in B cells, indicates that this gene family either includes the locus defined by the xid mutation or is adjacent to it in a gene complex which may be important in lymphocyte differentiation. 相似文献
43.
Large recurrent microdeletions associated with schizophrenia 总被引:1,自引:0,他引:1
Stefansson H Rujescu D Cichon S Pietiläinen OP Ingason A Steinberg S Fossdal R Sigurdsson E Sigmundsson T Buizer-Voskamp JE Hansen T Jakobsen KD Muglia P Francks C Matthews PM Gylfason A Halldorsson BV Gudbjartsson D Thorgeirsson TE Sigurdsson A Jonasdottir A Jonasdottir A Bjornsson A Mattiasdottir S Blondal T Haraldsson M Magnusdottir BB Giegling I Möller HJ Hartmann A Shianna KV Ge D Need AC Crombie C Fraser G Walker N Lonnqvist J Suvisaari J Tuulio-Henriksson A Paunio T Toulopoulou T 《Nature》2008,455(7210):232-236
Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia. 相似文献