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Query: UNIPROT:P06889 (Mol)
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Overlapping cDNA clones for a novel human X-linked gene, XE169, have been isolated and characterized. The composite cDNA sequence comprises 5910 bp (or 5901 bp) plus a poly(A) tail, with a 531 bp 5' and 696 bp 3' untranslated regions. The sequence represents a full-length or near full-length cDNA for the gene since Northern blot analysis reveals only a single prominent band approximately 6 kb in size. Alternative splicing generates two distinct transcripts either containing or missing a stretch of nine nucleotides in the XE169 single large open reading frame, which in turn predict two XE169 protein isoforms composed of 1557 and 1560 amino acids, respectively. Southern hybridization analysis of a panel of human-mouse somatic cell hybrids containing various portions of translocated human X chromosomes has assigned XE169 to the proximal half of the X short arm between Xp21.1 and the centromere. XE169 is expressed in multiple human tissues tested and homologous sequences exist on the human Y chromosome and in the genomes of five other eutherian mammals examined. RT-PCR analysis of somatic cell hybrids containing either an active or an inactive human X chromosome on a rodent background demonstrated that XE169 escapes X-inactivation.
Hum Mol Genet 1994 Jan
PMID:Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. 816 17

As an aid to the management of the Pyrenean population of the brown bear Ursus arctos, a sexing method based on the amplification of a Y chromosome specific sequence has been developed, and tested using hairs found in the field as a source of DNA. This method involves a two-step polymerase chain reaction (PCR) which allows the detection of a very small amount of DNA, probably a single SRY gene molecule. The sex can reliably be identified using about 50pg of DNA extract as template. It is possible that this approach could, with adjustments, be used to identify the sex of other species of eutherian mammals.
Mol Ecol 1993 Dec
PMID:Sexing free-ranging brown bears Ursus arctos using hairs found in the field. 816 29

The short arm of the Y chromosome of Drosophila hydei carries a single male fertility gene, gene Q, which forms the lampbrush loop pair Nooses. Conflicting observations have been reported concerning the identity of the repetitive DNA sequences that are transcribed in this loop pair. It has been claimed by other investigators that the loop transcripts contain repeats of two distinct, but related families of Y-specific repetitive DNA sequences, ay1 and YsI. We reinvestigated this issue, using as probes single ay1 and YsI repeats which, under stringent conditions, hybridize only to members of their own family. Under non-stringent conditions, both repeats hybridize in situ to Nooses transcripts. However, if hybridization conditions are stringent, only the ay1 probe hybridizes to loop transcripts. Hybridizations to Northern blots of testis RNA confirm these results. Further, YsI repeats are not found the closely related species D. eohydei. We conclude that the YsI repeats are not relevant for the function of fertility gene Q.
Mol Gen Genet 1994 Apr
PMID:Discrimination of related transcribed and non-transcribed repetitive DNA sequences from the Y chromosomes of Drosophila hydei and Drosophila eohydei. 819 71

This study concerns the cytogenetics of 23 gastric carcinomas, classified histologically as intestinal or diffuse types. In carcinomas of the diffuse type, the only numerical changes observed were Y chromosome loss associated with X-chromosome disomy in four of seven male patients. A 46, XX karyotype without recognizable alterations was observed in three of five female patients, and rare structural changes in diffuse carcinomas involved chromosomes 1 and 18. In contrast, intestinal type tumors were exclusively aneuploid, with chromosome modes ranging from 48 to 84. The most consistent change was trisomy 20 in seven of 11 patients, each of which displayed a number of both single and clonal structural aberrations. Frequent structural changes were translocations involving chromosome 13 (including a putative isochromosome 13q in three of 11 patients), and alterations in chromosomes 1, 6 and 12. This study therefore suggests that diffuse and intestinal types of gastric carcinomas do not share a common sequence of genetic changes. The tumor with the worse prognosis (diffuse type) is surprisingly diploid, with uniform X-disomy in both males and females. The clinically less aggressive tumors (intestinal type) show multiple changes, both numerical and structural, of which some are reminiscent of changes seen in tumors of the lower gastrointestinal tract. Cytogenetics may thus be a valuable adjunct in establishing the diagnosis, classification, and prognosis of gastric carcinomas.
Virchows Arch B Cell Pathol Incl Mol Pathol 1993
PMID:Cytogenetic differences between intestinal and diffuse types of human gastric carcinoma. 824 74

Phylogenetic analyses of genetic data arising from 144 gene loci are used to describe the interrelationships among 24 widely used inbred strains of mice. An unordered-parsimony analysis gives a cladogram that is virtually identical to the known genealogy of the mouse strains. A loss-parsimony analysis is used to evaluate the hypothesis that the observed patterns of genetic divergence among these 24 strains can be explained by the segregation of residual heterozygosity arising from a small population of highly heterozygous mice. The loss-parsimony cladogram is very similar to both the unordered-parsimony cladogram and the known genealogy of the mice. The phylogenetic analyses of these 144 loci are integrated with data on the type and origin of the Y chromosome. Inclusion of the Y-chromosome data provides additional insights into the genetic composition of several of the original stocks used to produce the current inbred strains of mice. Ten strains of uncertain origin are contained in these analyses, including AKR, BUB, CE, I, NZB, P, RF, SJL, ST, and SWR. SJL is hypothesized to have been derived from the same Swiss albino stock previously used to produce SWR. The BUB strain appears to have had a complex origin and shows closest genetic similarity to SWR and ST. AKR and RF are shown to be closely related, while the I strain shows greatest genetic similarity to DBA/2 for the 144 loci. However, I and DBA possess different types of Y chromosome. The NZB strain shows genetic similarity to several stocks of both U.S. and European origins. The power of the genetic data used in these analyses reiterates that inbred strains of mice can be a valuable paradigm for studies in evolutionary biology.
Mol Biol Evol 1993 Nov
PMID:Genetic affinities of inbred mouse strains of uncertain origin. 827 49

In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.
Hum Mol Genet 1993 Nov
PMID:A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. 828 Nov 47

The haplotypes of Y chromosome (paternally inherited) and mtDNA (maternally inherited) were analyzed in representatives of six Jewish communities (Ashkenazic, North African, Near Eastern, Yemenite, Minor Asian/Balkanian, and Ethiopian). For both elements, the Ethiopian community has a mixture of typically African and typically Caucasian haplotypes and is significantly different from all others. The other communities, whose haplotypes are mostly Caucasian, are more closely related; significant differences that were found among some of them possibly indicate the effects of admixture with neighboring communities of non-Jews. The different contribution of the Y chromosome and mtDNA haplotypes to the significant differences among the communities can be explained by unequal involvement of males and females in the different admixtures. In all communities, except the Ethiopians, the level of diversity (h) for Y chromosome haplotypes is higher than that for mtDNA haplotypes, suggesting that in each community the people who become parents include more males than females. An opposite proportion (more females than males) is found among the Ethiopians.
J Mol Evol 1993 Oct
PMID:The differences among Jewish communities--maternal and paternal contributions. 830 11

Studies designed to answer the question whether or not H-Y antigen is preferentially expressed on Y chromosome bearing sperm have resulted in conflicting results. This is probably due to the absence of reliable methods for estimating the percentage of X and Y chromosome bearing sperm in fractions, enriched or depleted for H-Y antigen positive sperm. In recent years a reliable method for separating X and Y chromosome bearing sperm has been published. With this method, separation is achieved by using a flow cytometer/cell sorter, which detects differences in DNA content. This technique provided the first opportunity for testing anti-H-Y antibody binding to fractions enriched for X and Y chromosome bearing sperm, directly. A total of 7 anti-H-Y monoclonal antibodies were tested using sorted porcine sperm and in one experiment also sorted bovine sperm. All monoclonal antibodies bound only a fraction of the sperm (20 to 50%). However, no difference in binding to the X and Y sperm enriched fractions was found. Therefore, the present experiments do not yield evidence that H-Y antigen is preferentially expressed in Y chromosome bearing sperm.
Mol Reprod Dev 1993 Jun
PMID:Binding of anti-H-Y monoclonal antibodies to separated X and Y chromosome-bearing porcine and bovine sperm. 831 24

The open reading frame of the SRY gene has been examined in a series of 22 XY females with clinically defined pure gonadal dysgenesis by direct sequencing of biotinylated PCR product bound to streptavidin coated beads. Amongst the 22 XY females examined, five (two of whom are sisters) were found to have single base changes all within the highly conserved DNA binding (or HMG box) domain. In the remaining 17 cases, the SRY gene sequence was indistinguishable from that found in normal males. In three of the XY females with point mutations, the altered amino acids occur in highly conserved positions leading to non-conservative changes (Arg to Gly at position 5, Met to Thr at position 21 and Arg to Trp at position 76). Examination of the SRY gene from the father's Y chromosome has shown that the mutations at position 5 in patient SHM60 and position 21 in patient HN31 have arisen de novo. In the case of the two sibs, both have identical mutations where a C to T transition in codon 17 has created a TAG termination signal, thus suggesting that the deceased father is likely to be a gonadal mosaic for the mutation. In the case of the mutations at positions 17 and 76, the fathers are not available for investigation and so it has not been possible to determine whether the changes are de novo. These data indicate that the majority of XY females with pure gonadal dysgenesis owe their sex-reversed phenotype to mutations in as yet uncharacterised segments of the SRY gene, or, at other loci acting early in the sex-determining pathway.
Hum Mol Genet 1993 Jun
PMID:Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. 835 96

Y-chromosomes derived from house mouse populations of Mus domesticus are able to lead to the formation of XY females (i.e. hermaphrodite individuals with both ovarian and testicular tissues) when inserted, by appropriate crosses, into the C57BL/6J genome, which usually carries the Mus musculus Y chromosome. An abnormal interaction between the testis-determining gene on the Y (of domesticus origin) and an autosomal recessive allele (of musculus origin) needed for testicular formation is the likely explanation of this phenomenon. In the present paper we analyse the histological kinetics of gonadal development in hermaphrodites obtained by introducing the Y chromosomes from wild living house mice [from Zagreb, (Croatia) and Hohenentringen (Southern Germany)] into the C57BL/6J genome. Among 88 individuals, 9 XY hermaphrodites were detected, 6 before birth and 3 afterwards. The percentage of the ovarian-type tissues in the ovotestes fell drastically between day 18 of fetal life and day 20 after birth. These findings corroborate and extend those already published for other Y domesticus chromosomes and stress the possible role of Y chromosome differentiation in speciation processes.
Cell Mol Biol (Noisy-le-grand) 1993 Jul
PMID:Further examination of the kinetics of gonadal development in XY female mice. 837 3


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