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91.
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia 总被引:1,自引:0,他引:1
Nakae J; Tajima T; Sugawara T; Arakane F; Hanaki K; Hotsubo T; Igarashi N; Igarashi Y; Ishii T; Koda N; Kondo T; Kohno H; Nakagawa Y; Tachibana K; Takeshima Y; Tsubouchi K; Strauss JF rd; Fujieda K 《Human molecular genetics》1997,6(4):571-576
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal
hyperplasia (lipoid CAH) representing 16 different families was examined to
identify the genetic alterations of steroidogenic acute regulatory protein
(StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY
karyotype. Six of the 46,XX patients have experienced spontaneous pubertal
changes including breast development and irregular menstruation whereas
none of the 46,XY subjects displayed pubertal changes. Eight different
mutations were identified. Sixteen patients were either homozygotes or
compound heterozygotes for the Q258X mutation. The seven other mutations
identified were 189delG, 246insG, 564del13bp, 838delA, Q212X, A218V and
M225T. The 189delG, 246insG, 546del13bp and Q212X mutants encode truncated
proteins. COS-1 cells transfected with expression vectors encoding cDNAs
for the mutant StAR proteins which affect the C-terminus, 838delA, A218V
and Q258X, exhibited no steroidogenesis enhancing activity. However, the
M225T mutant retained some steroidogenic activity. The patient with the
M225T mutation had late onset of this disorder and some capacity to secrete
testosterone in response to hCG. These findings suggest: (i) that the Q258X
mutation can be used as a genetic marker for the screening of Japanese for
lipoid CAH, (ii) that the C-terminus of StAR plays an important role in the
protein's activity and (iii) that there are differences in the extent of
functional impairment of the testis and ovaries in lipoid CAH.
相似文献
92.
Nishikawa Y Iwata A Katsumata A Xuan X Nagasawa H Igarashi I Fujisaki K Otsuka H Mikami T 《Virus research》2001,75(2):113-121
A recombinant vaccinia virus-expressing canine interferon (IFN)-gamma (vv/cIFN-gamma) was constructed. In rabbit kidney (RK13) and canine A72 cells infected with vv/cIFN-gamma, IFN activity was detected in the culture supernatants of both cell types. Canine IFN-gamma was also detected in both cell extracts by Western blot. The activity of the recombinant canine IFN-gamma in RK13 cells was higher than that in A72 cells. The vv/cIFN-gamma could not grow in A72 cells at a low multiplicity of infection, probably due to the antiviral activity of the canine IFN-gamma produced. Although exogenous IFN-gamma did not inhibit the growth of vaccinia virus, addition of anti-canine IFN-gamma serum recovered the growth of the vv/cIFN-gamma on A72 cells in a dose-dependent manner. These results suggest that the growth of vv/cIFN-gamma was inhibited by IFN-gamma produced in a paracrine and autocrine manner. In addition, the recombinant canine IFN-gamma inhibited the multiplication of canine herpesvirus, pseudorabies virus and canine adenovirus type 1 in Madin-Darby canine kidney cells. The antiviral effect of canine IFN-gamma was more effective than that of canine IFN-beta. From the present studies, we concluded the recombinant virus may be a useful suicide viral vector. 相似文献
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94.
Masahiro Yamashita Anat Achiron Tomoyuki Miura Jun Takehisa Eiji Ido Tatsuhiko Igarashi Kentaro Ibuki Mitsuhiro Osame Shunro Sonoda Eldad Melamed Prof. Masanori Hayami Batya Shohat 《Virus genes》1995,10(1):85-90
A new endemic focus of human T-lymphotropic virus type I (HTL V-I) was recently reported among Mashhadi Jews, a group of immigrants from northeastern Iran to Israel. We extracted DNAs from fresh peripheral blood mononuclear cells (PBMCs) and/or gargle mouthwash from 10 HTL V-I carriers, who consisted of members of one family, and HTL V-I-associated myelopathy (HAM) and adult T-cell leukemia (ATL) patients. Long terminal repeat (LTR) regions of proviral DNAs were sequenced and analyzed phylogenetically. In a phylogenetic tree, all the Mashhadi HTL V-I isolates belonged to subtype A, one of the three subtypes of the cosmopolitan type of HTL V-I, and made a tight cluster distinct from the other isolates of subtype A from Japan, India, the Caribbean Basin, and South America. Although a few nucleotide substitutions were observed among the clones sequenced, no characteristic sequence variation was found in different disease manifestations, even in one family or different sources of DNA preparation. 相似文献
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100.
T. Crepaldi P. Richiardi F. Malavasi A. O. Carbonara M. Igarashi S. Ferrone 《Tissue antigens》1985,26(1):25-34
2-dimensional gel electrophoresis analysis and sequential immunoprecipitation studies have shown that the monoclonal antibody (MoAb) AC1.59 recognizes a gene product of the HLA-DR locus. The determinant defined by the MoAb AC-1.59 has an unusual distribution on HLA-DR allospecificities, since it is expressed by HLA-DR1, DRw8, DRw9 antigens and by subtypes of HLA-DRw6 and HLA-DR4 antigens. In the latter allospecificity the expression of the MoAb AC1.59 defined determinant correlates with the cellularly defined HLA-Dw4 alloantigen. The present investigation provides evidence of serological heterogeneity within HLA-DR alloantigens. Furthermore these results suggest that monoclonal antibodies can sharpen the discriminatory power of serological assays to dissect the heterogeneity and complexity of HLA-DR alloantigens. 相似文献