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11.
Brown JJ Thomson W Clegg P Eyre S Kennedy LJ Matthews J Carter S Ollier WE 《Tissue antigens》2004,64(2):173-179
The full extent of the polymorphism of ELA-DRA in Equidae is not yet known. Given the apparent differences in DRA polymorphisms between Equidae and other species, the aims of this study were to more fully characterize ELA-DRA, determine the extent of gene polymorphism and establish the allele-frequency distribution. An allele reference panel for the second exon of ELA-DRA was established by sequence-based typing of 69 equine DNA samples consisting of various breeds of domestic horse (Equus caballus), together with donkeys (Equus asinus), Grant's zebras (Equus boehmi) and one onager (Equus hemionus). Five of the six previously reported alleles detected using single-strand conformation polymorphism were found: ELA-DRA*0101, ELA-DRA*0201, ELA-DRA*0301, ELA-DRA*0501 (Albright-Fraser DG et al. Polymorphism of DRA among equids. Immunogenetics 1996: 43: 315-7) and ELA-DRA*0601 (GenBank accession number AF5419361). In addition to the previously reported alleles, five novel ELA-DRA alleles were detected within the ELA-DRA allele reference panel. One of these was identified in E. caballus (ELA-DRA*JBH11), one in E. boehmi and E. hemionus (ELA-DRA*JBZ185) and three in E. asinus (ELA-DRA*JBD3, ELA-DRA*JBD17 and ELA-DRA*JBH45). A total of 565 equine DNA samples were screened using reference-strand-mediated conformation analysis, a double-stranded conformation-based mutation detection system that can be used to type existing ELA-DRA alleles and identify new variants. Based on our findings, at least 11 ELA-DRA alleles are now known to exist, and this level of polymorphism at the DRA locus appears to be unique to the genus Equus. Both the previously reported alleles and the new alleles displayed a species-specific distribution. 相似文献
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13.
The intercellular adhesion molecule (ICAM) family of proteins 总被引:8,自引:0,他引:8
Macromolecular adhesive associations between cells are important for transmitting spatial and temporal information that is
critical for immune system function. One such group of proteins, the intercellular adhesion molecules (ICAMs), has grown as
newly identified members are revealed. In addition, the functions of the ICAMs, in general, have begun to be better understood,
including intracellular signaling events. This information has led to the design of novel therapeutic agents that may prove
effective in a variety of disease states. 相似文献
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19.
Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains 总被引:6,自引:2,他引:6
Flint J; Bates GP; Clark K; Dorman A; Willingham D; Roe BA; Micklem G; Higgs DR; Louis EJ 《Human molecular genetics》1997,6(8):1305-1313
We have sequenced and compared DNA from the ends of three human
chromosomes: 4p, 16p and 22q. In all cases the pro-terminal regions are
subdivided by degenerate (TTAGGG)n repeats into distal and proximal sub-
domains with entirely different patterns of homology to other chromosome
ends. The distal regions contain numerous, short (<2 kb) segments of
interrupted homology to many other human telomeric regions. The proximal
regions show much longer (approximately 10-40 kb) uninterrupted homology to
a few chromosome ends. A comparison of all yeast subtelomeric regions
indicates that they too are subdivided by degenerate TTAGGG repeats into
distal and proximal sub-domains with similarly different patterns of
identity to other non-homologous chromosome ends. Sequence comparisons
indicate that the distal and proximal sub-domains do not interact with each
other and that they interact quite differently with the corresponding
regions on other, non- homologous, chromosomes. These findings suggest that
the degenerate TTAGGG repeats identify a previously unrecognized,
evolutionarily conserved boundary between remarkably different subtelomeric
domains.
相似文献
20.
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome 总被引:11,自引:3,他引:11
Picketts DJ; Higgs DR; Bachoo S; Blake DJ; Quarrell OW; Gibbons RJ 《Human molecular genetics》1996,5(12):1899-1907
It was shown recently that mutations of the ATRX gene give rise to a
severe, X-linked form of syndromal mental retardation associated with alpha
thalassaemia (ATR-X syndrome). In this study, we have characterised the
full-length cDNA and predicted structure of the ATRX protein. Comparative
analysis shows that it is an entirely new member of the SNF2 subgroup of a
superfamily of proteins with similar ATPase and helicase domains. ATRX
probably acts as a regulator of gene expression. Definition of its genomic
structure enabled us to identify four novel splicing defects by screening
52 affected individuals. Correlation between these and previously
identified mutations with variations in the ATR-X phenotype provides
insights into the pathophysiology of this disease and the normal role of
the ATRX protein in vivo.
相似文献