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Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases 总被引:2,自引:0,他引:2
Hargrave M James K Nield K Toomes C Georgas K Sullivan T Verzijl HT Oley CA Little M De Jonghe P Kwon JM Kremer H Dixon MJ Timmerman V Yamada T Koopman P 《Human genetics》2000,106(4):432-439
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A DNA polymorphism specific to Candida albicans strains exceptionally successful as human pathogens 总被引:1,自引:0,他引:1
Giblin L Edelmann A Zhang N von Maltzahn NB Cleland SB Sullivan PA Schmid J 《Gene》2001,265(1-2):157-164
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The mammalian sex determining region on the Y chromosome, SRY, is the founding member of the SOX gene family. SOX genes share a common DNA-binding motif termed the HMG box and have diverse roles in vertebrate embryonic development and tissue differentiation. Sox15 expression was analysed during mouse embryogenesis by whole-mount in situ hybridisation and Real Time RT-PCR. Sox15 was found to be expressed in developing mouse gonads from 11.5 dpc to 13.5 dpc with a peak of expression at 12.5 dpc. Expression was approximately twice as high in the male gonad as in the female gonad. 相似文献
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E Osaki Y Nishina J Inazawa N G Copeland D J Gilbert N A Jenkins M Ohsugi T Tezuka M Yoshida K Semba 《Nucleic acids research》1999,27(12):2503-2510
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Members of the SOX gene family encode proteins with homology to the HMG box DNA-binding domain of SRY, the Y-linked testis-determining gene. SOX genes are expressed during embryogenesis and are involved in the development of a wide range of different tissues. Mutations in SRY, SOX9 and SOX10 have been shown to be responsible for XY sex reversal, campomelic dysplasia and Waardenburg-Hirschsprung disease, respectively. It is likely that mutations in other SOX genes are responsible for a variety of human genetic diseases. SOX14 has been identified from a human genomic library and the mouse and chicken sequences obtained by polymerase chain reaction amplification. The SOX14 amino acid sequence is highly conserved across these species, suggesting an important role for this protein in vertebrate development. SOX14 is expressed in the neural tube and apical ectodermal ridge of the developing chicken limb. This is the only SOX gene known to be expressed in the apical ectodermal ridge, a structure that directs outgrowth of the embryonic limb bud. Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome. Although SOX14 maps outside these loci, its expression pattern and chromosomal localisation suggest that it is a candidate gene for the limb defects frequently associated with these syndromes. 相似文献
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The Sry-related HMG box-containing gene Sox6 is expressed in the adult testis and developing nervous system of the mouse. 总被引:13,自引:1,他引:12
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We have cloned and sequenced a full-length cDNA for the HMG box-containing, SRY-related gene Sox6 from mouse. The deduced protein sequence of Sox6 has considerable homology with that of the previously determined Sox5 sequence. It seems likely that these genes have diverged more recently than other members of the SOX gene family, although the two genes map to different chromosomes in the mouse. In common with Sox5, Sox6 is highly expressed in the adult mouse testis and the HMG domains of both proteins bind to the sequence 5'-AACAAT-3'. This suggests that the two genes may have overlapping functions in the regulation of gene expression during spermatogenesis in the adult mouse. However, Sox6 may have an additional role in the mouse embryo, where it is specifically expressed in the developing nervous system. 相似文献
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