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1.
Dictyate oocytes of a kangaroo (Macropus robustus) show paternal inactivation at the X-linked Gpd locus 总被引:1,自引:0,他引:1
Purified samples of large numbers of dictyate oocytes from 13 M. robustus pouch young heterozygous for glucose-6-phosphate dehydrogenase type and six homozygous controls were examined electrophoretically to determine activity states at the Gpd locus. Like somatic cortical and medullary cells, oocytes expressed only the maternal phenotype irrespective of the direction of the cross. No evidence was found of reactivation of the inactive (paternal) allele or inactivation of both maternal and paternal alleles. It was therefore concluded that unlike eutherian dictyate oocytes, only a single (maternal) allele is active in each dictyate oocyte in M. robustus. The stage of reactivation of the paternal allele remains to be determined. 相似文献
2.
Wallaroos (Macropus robustus robustus), which have the G6PD-F electrophoretic phenotype, crossed with euros (M.r.erubescens), of G6PD-S phenotype, produced F1 animals which had only the maternal G6PD type regardless of the direction of the cross. When F1 hybrids were backcrossed to wallaroos or euros, backcross progeny of either perental phenotype resulted. Sex-linked inheritance of allelic G6PD genes is shown to occur in wallaroos, euros and red kangaroos (M. rufus). Dose compensation for X chromosomes at the G6PD locus in kangaroow is achieved by inactivation of the allele of male parental origin. 相似文献
3.
Cultured fibroblasts and lymphocytes from M. robustus females heterozygous for the X-linked Gpd gene were examined electrophoretically and cytologically. Gpd expression in lymphocytes was restricted to the maternal allele while in fibroblasts there was also partial expression of the paternal allele. The Gpd gene is thought to be located on the long arm of the X chromosome. However, in fibroblasts the long arm of the paternal X chromosome showed no indication of an early replicating segment. 相似文献
4.
Cytogenetic studies have shown that bandicoots (family Peramelidae) eliminate one X chromosome in females and the Y chromosome in males from some somatic tissues at different stages during development. The discovery of a polymorphism for X-linked phosphoglycerate kinase (PGK-1) in a population of Isoodon obesulus from Mount Gambier, South Australia, has allowed us to answer a number of long standing questions relating to the parental source of the eliminated X chromosome, X chromosome inactivation and reactivation in somatic and germ cells of female bandicoots. We have found no evidence of paternal PGK-1 allele expression in a wide range of somatic tissues and cell types from known female heterozygotes. We conclude that paternal X chromosome inactivation occurs in bandicoots as in other marsupial groups and that it is the paternally derived X chromosome that is eliminated from some cell types of females. The absence of PGK-1 paternal activity in somatic cells allowed us to examine the state of X chromosome activity in germ cells. Electrophoresis of germ cells from different aged pouch young heterozygotes showed only maternal allele expression in oogonia whereas an additional paternally derived band was observed in pre-dictyate oocytes. We conclude that reactivation of the inactive X chromosome occurs around the onset of meiosis in female bandicoots. As in other mammals, late replication is a common feature of the Y chromosome in male and the inactive X chromosome in female bandicoots. The basis of sex chromosome loss is still not known; however later timing of DNA synthesis is involved. Our finding that the paternally derived X chromosome is eliminated in females suggests that late DNA replication may provide the imprint for paternal X inactivation and the elimination of sex chromosomes in bandicoots. 相似文献
5.
Paul B. Samollow Edwards S. Robinson Allen L. Ford John L. Vandeberg 《Genesis (New York, N.Y. : 2000)》1995,16(4):367-374
Metatherian (marsupial) mammals possess a non-random form of X-chromosome inactivation in which the paternally-derived X is always the one inactivated. To examine the progression of X-linked gene expression during metatherian development, we compared relative levels of the maternally and paternally encoded Gpd gene products in heterozygous female Virginia opossums (Didelphis virginiana) across a moior portion of the developmental period. Panels of tissues obtained from fetuses, newborns, and pouch young were examined via polyacrylamide gel electrophoresis of the G6PD protein. As in adults, G6PD phenotypes in these developmental stages were highly skewed in favor of the maternal allele product, but in some tissues there was a marked increase in paternal allele expression with advancing developmental age. However, even by 42 days of post-partum development, expression of the paternal Gpd allele had not attained the adult, tissue-specific activity pattern. Our findings indicate remarkable developmental changes in the activity of the paternal allele in several tissues/organs continuing well into mid pouch-life stages and beyond. Specifically we found that 1) a substantially repressed paternal Gpdgene is present in the cells of female stage 29 fetuses and later developmental stages, 2) the activity state of the paternal Gpd gene is not fixed during early embryonic development in this species, 3) maior changes in paternal Gpd expression occur in advanced developmental stages and comprise a maturation of the gene expression pattern during ontogeny, and 4) alterations of paternal Gpd allele activity during development occur in a tissue-specific manner. © 1995 Wiley-Liss, Inc. 相似文献
6.
Parental influences on expression of glucose-6-phosphate dehydrogenase, G6pd, in the mouse; a case of imprinting 总被引:1,自引:0,他引:1
Glucose-6-phosphate dehydrogenase (G6PD) activity was measured in blood from heterozygotes for the normal allele G6pda and the low activity allele G6pda-mlNeu. In adult mice lower activity was found in G6pda/G6pda-mlNeu than in the reciprocal heterozygote G6pda-mlNeu/G6pda (the maternal allele being listed first). Thus, either the paternally derived allele was over-expressed or the maternally derived allele was under-expressed. By contrast, in younger mice the difference in G6PD activity in reciprocal crosses was less marked. The findings are interpreted in terms of differential imprinting of maternally and paternally inherited information. The explanation offered for age related differences is that, as a consequence of imprinting, either the paternal X-chromosome is preferentially reactivated, or cells in which the paternally derived allele is active are at a selective advantage, and proliferate better than those in which the maternally inherited allele is active. 相似文献
7.
Two discriminant functions were designed using skull measurements, one to discriminate Antilopine wallaroos ( antilopinus form) and Euros ( erubescens form) and one to discriminate Euros and Black wallaroos ( bernardus form). These three forms separated into different areas of a scatter-gram using the two discriminant functions as axes. Skull data from wallaroos not attributable to these forms fitted into the erubescens portion of the scattergram.
Northern wallaroos ( alligatoris form), which were indistinguishable from wallaroos from southern Australia on skull data, are sympatric with Antilopine and Black wallaroos in Arnhem Land. Here Antilopine and Northern wallaroos had different gene frequencies for three of the four blood proteins studied; Northern wallaroos being most like Euros and wallaroos elsewhere. The Black wallaroo, which is confined to Arnhem Land and is morphologically quite distinctive, had a different haemoglobin type to that of all other animals studied.
On the basis of the morphological and biochemical data presented, the wallaroos can be divided into three species— Macropus (Osphranter) antilopinus (Gould, 1842), the Antilopine wallaroo; Macropus (Osphranter) bernardus Rothschild, 1904, the Black wallaroo and Macropus (Osphranter) robustus Gould, 1841. M. robustus is divisible into four subspecies— M. robustus robustus the Eastern wallaroo; M. r. erubescens , the Euro; M. r. woodwardi , the Northern wallaroo and M. r. isabellinus , the Barrow Island wallaroo. 相似文献
Northern wallaroos ( alligatoris form), which were indistinguishable from wallaroos from southern Australia on skull data, are sympatric with Antilopine and Black wallaroos in Arnhem Land. Here Antilopine and Northern wallaroos had different gene frequencies for three of the four blood proteins studied; Northern wallaroos being most like Euros and wallaroos elsewhere. The Black wallaroo, which is confined to Arnhem Land and is morphologically quite distinctive, had a different haemoglobin type to that of all other animals studied.
On the basis of the morphological and biochemical data presented, the wallaroos can be divided into three species— Macropus (Osphranter) antilopinus (Gould, 1842), the Antilopine wallaroo; Macropus (Osphranter) bernardus Rothschild, 1904, the Black wallaroo and Macropus (Osphranter) robustus Gould, 1841. M. robustus is divisible into four subspecies— M. robustus robustus the Eastern wallaroo; M. r. erubescens , the Euro; M. r. woodwardi , the Northern wallaroo and M. r. isabellinus , the Barrow Island wallaroo. 相似文献
8.
Paul B. Samollow Peter G. Johnston Allen L. Ford John L. VandeBerg 《Biochemical genetics》1989,27(5-6):313-320
Fibroblasts cultured from ear pinna biopsies of Virginia opossums (Didelphis virginiana) and red-necked wallabies (Macropus rufogriseus) were examined electrophoretically to determine the relative expression levels of the maternally and paternally derived alleles at X-linked, enzyme-coding loci. Only the maternally derived allele was expressed at thePgk-A locus in fibroblasts of heterozygousD. virginiana (M. rufogriseus not examined), but fibroblasts of both species exhibited evidence of paternal allele expression a t theGpd locus. Furthermore, the heterozygous G6PD phenotypes in both species were skewed in favor of the maternal gene product, as expected if the paternal allele is only partially (incompletely) expressed. ForM. rufogriseus this result is contrary to a previous finding which suggested equal expression of bothGpd alleles in cultured fibroblasts of this species. The present results suggest that X-linked genes in metatherian fibroblasts are subject to the same kind of determinate, paternal allele inactivation, incomplete at some loci, described previously for X-linked genes in adult tissues and that the pattern of paternal X-linked gene expression in these cells is independent of the patterns in the tissues from which the fibroblasts are derived.The work was supported in part by grants from the National Institutes of Health (Biomedical Research Support Grant RR-05519) and the National Science Foundation (DCB 8516949). 相似文献
9.
Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) was examined by 13% starch gel electrophoresis in 74 mules (42 females and 32 males), 35 donkeys, and ten horses. The quantitative expression of the parental alleles at the Gpd locus varies greatly in female mules from the hemizygous expression of the maternal allele to that of the paternal. The data obtained indicate that the X chromosomes are randomly inactivated in female mules. No selective advantage of a cell population with a maternally (or paternally) derived X active was found in female mule erythrocytes. It is suggested that the phenotypic variability in the expression of the parental Gpd alleles is related to the random proportions established between cells having either a maternal or paternal X active in an initiator (stem) cell group giving rise to erythroid tissue. Initiator cell numbers estimated for erythroid tissue (six or seven) are close to those reported for human females and intergeneric fox hybrids. These numbers may vary depending on the duration of the time of determination and the division rate of initiator cells at determination. 相似文献
10.
H. -H. Ropers H. W. Hitzeroth H. Hameister G. Wolff J. M. P. Geerthsen 《Human genetics》1978,42(2):215-221
Summary In a recent population study, we observed a striking deficit of G6PD heterozygotes among Southern African Negroid females. This finding was interpreted tentatively as evidence for a small number of hematopoetic stem cells in man. In a follow-up study we examined peripheral blood and cord blood in 547 mothers and in their newborn offspring. In mothers and sons, the frequencies of the G6PD alleles are apparently quite different. When the allele frequencies determined in sons are used for calculation of the expected phenotype frequencies in mothers and daughters, there is a large deficit of maternal G6PD AB phenotypes, and an equivalent surplus of G6PD homozygotes. However, no relevant heterozygote deficit is observed in newborn daughters. This discrepancy may be explained by the assumption that in peripheral blood of heterozygotes carrying the GdA- allele, G6PD-deficient cells progressively become eliminated during development from birth to adulthood. In other words, the large heterozygote deficit observed in adult females may be due to somatic selection rather than to a small pool of hematopoetic cells at the time of X differentiation.H-.H.R. is supported by the Deutsche Forschungsgemeinschaft 相似文献
11.
A study of X chromosome regulation during oogenesis in the mouse 总被引:4,自引:0,他引:4
R J Andina 《Experimental cell research》1978,111(1):211-218
Mature oocytes of mammals, in contrast to somatic cells, have two active X chromosomes. This situation might arise through either of two possible mechanisms. The germ line might be differentiated from somatic cells prior to X inactivation. Alternatively, an X chromosome in germ cells would be reactivated after prior inactivation. This paper presents data compatible with reactivation of the X in germ cells. X-linked enzymes were compared in oocytes of XX and XO fetal mice. The activity of G6PD is similar in the two classes of cells at early meiotic stages, but an ratio of 2:1 is approached at later times; this suggests reactivation of the G6PD locus. For HPRT, a 2:1 ratio is observed at all meiotic stages. HPRT shows a large increase in enzyme activity during early meiosis, while G6PD does not. Synthesis of this enzyme at early meiotic stages probably accounts for differences between these data and those obtained for G6PD, and places the time of X reactivation at the entry to meiosis. 相似文献
12.
Differences in breeding, population structure, dispersion and habitat are described between various species and subspecies of wallaroo (Macropus robustus robustus; M. r. cervinus; M. r. alligatoris; M. r. erubescens; Macropus antilopinus; Macropus bernardus).
Pouch young of Macropus robustus erubescens in western New South Wales were born throughout the year, while in both M. r. alligatoris and M. antilopinus then Northern Territory, most pouch young found were born during March and April.
In the populations of wallaroos in western New South Wales and the Northern Territory where there had been no systematic shooting of wallaroos for many years, 11|X% of the animals were immature. In the New England district of New South Wales where regular shooting occurs, 46|X% of the animals were immature.
The habitat of M. r. alligatoris of the Northern Territory was very similar to that of M. erubescens in inland Australia, amongst rocky hills and gullies. M. antilopinus , which is sympatric with M. r. alligatoris in the Northern Territory, also occurred in the rocky hills, but it was also found in open savannah woodland in flat and gently undulating country.
M. r. erubescens and M. r. alligatoris were almost always seen alone or in pairs, while M. antilopinus often formed larger groups. 相似文献
Pouch young of Macropus robustus erubescens in western New South Wales were born throughout the year, while in both M. r. alligatoris and M. antilopinus then Northern Territory, most pouch young found were born during March and April.
In the populations of wallaroos in western New South Wales and the Northern Territory where there had been no systematic shooting of wallaroos for many years, 11|X% of the animals were immature. In the New England district of New South Wales where regular shooting occurs, 46|X% of the animals were immature.
The habitat of M. r. alligatoris of the Northern Territory was very similar to that of M. erubescens in inland Australia, amongst rocky hills and gullies. M. antilopinus , which is sympatric with M. r. alligatoris in the Northern Territory, also occurred in the rocky hills, but it was also found in open savannah woodland in flat and gently undulating country.
M. r. erubescens and M. r. alligatoris were almost always seen alone or in pairs, while M. antilopinus often formed larger groups. 相似文献
13.
In mouse development, the paternal allele of the X-linked gene Pgk-1 initiates expression on day 6, two days later than the maternal allele, which is activated on day 4. The different timing of expression of the maternal and paternal alleles may be determined by (i) imprinting of the chromosome region in which the gene resides, but not aimed specifically at the Pgk-1 gene; (ii) gene specific imprinting, acting on Pgk-1 irrespective of the chromosomal localization of the gene; (iii) an interplay between embryo cell differentiation, timing of X-inactivation and Pgk-1 expression, without the involvement of imprinting at the Pgk-1 locus itself (Fundele R., Illmensee, K., Jagerbauer, E. M., Fehlau, M. and Krietsch, W. K. (1987) Differentiation 35, 31-36). Our findings in transgenic mouse lines, carrying Pgk-1 on autosomes, indicate the importance of the X chromosomal location for the delayed expression of the paternal Pgk-1 allele, and are in agreement with the first of the explanations listed above. We propose that the late activation of the paternal Pgk-1 locus is a consequence of imprinting targeted at, and centered around, the X chromosome controlling element. 相似文献
14.
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
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J T Clarke W L Greer P M Strasberg R D Pearce M A Skomorowski P N Ray 《American journal of human genetics》1991,49(2):289-297
The mechanism of profound generalized iduronate sulfatase (IDS) deficiency in a developmentally delayed female with clinical Hunter syndrome was studied. Methylation-sensitive RFLP analysis of DNA from peripheral blood lymphocytes from the patient, using MspI/HpaII digestion and probing with M27 beta, showed that the paternal allele was resistant to HpaII digestion (i.e., was methylated) while the maternal allele was digested (i.e., was hypomethylated), indicating marked imbalance of X-chromosome inactivation in peripheral blood lymphocytes of the patient. Similar studies on DNA from maternal lymphocytes showed random X-chromosome inactivation. Among a total of 40 independent maternal fibroblast clones isolated by dilution plating and analyzed for IDS activity, no IDS- clone was found. Somatic cell hybrid clones containing at least one active human X chromosome were produced by fusion of patient fibroblasts with Hprt- hamster fibroblasts (RJK88) and grown in HAT-ouabain medium. Methylation-sensitive RFLP analysis of DNA from the hybrids showed that of the 22 clones that retained the DXS255 locus (M27 beta), all contained the paternal allele in the methylated (active) form. No clone was isolated containing only the maternal X chromosome, and in no case was the maternal allele hypermethylated. We postulate from these studies that the patient has MPS II as a result of a mutation resulting in both the disruption of the IDS locus on her paternal X chromosome and unbalanced inactivation of the nonmutant maternal X chromosome. 相似文献
15.
Data are presented on G6PD electrophoretic patterns in fetal ovarian preparations of G6PD heterozygotes. The results indicate that in the early or mitotic period of female germ cell development, only a single X chromosome is active in each oogonium just as is the case for X inactivated somatic tissue. However, in the later or meiotic stage, reactivation of the inactive X chromosome in each oocyte occurs so that two functional X chromosomes are present in each oocyte. 相似文献
16.
We examined the activity of X-linked glucose-6-phosphate dehydrogenase (G6PD) in concepti of the enzyme-deficient mutant and wild-type C3H mice. By using different crosses between the G6PD-deficient homozygous, heterozygous, or wild-type females and hemizygous or wild-type males, we confirmed the inactivation of one of the two X chromosomes in female concepti by a histochemical method. With this technique, a dual (G6PD + or -) cell population could be observed in the tissue sections. We demonstrate that the paternal X chromosome is inactivated in the endoderm of parietal and visceral yolk sac and in the trophoblast, whereas in the embryo and in the yolk sac mesoderm this inactivation is random. Our results confirm biochemical observations showing that only the maternal X chromosome is expressed in all derivatives of trophectoderm and primitive endoderm, whereas derivatives of the primitive ectoderm show random X chromosome expression. 相似文献
17.
Summary In placenta membranes of newborn girls carrying electrophoretically distinguishable G6PD alleles, the maternally derived isozyme is expressed preferentially. This phenomenon cannot be explained by allelic differences in enzyme activity or by somatic selection directed against cells with particular G6PD phenotypes. Instead, it may be that in this tissue X inactivation is nonrandom. Preferential expression of the maternal X chromosome, as has been shown in marsupials and in extraembryonic membranes of rodents and now in man, may reflect the state of activity of the X chromosomes in the early stages of female embryonic development.H.-H. R. is supported by the Deutsche Forschungsgemeinschaft 相似文献
18.
The overall nuclease sensitivity and methylation of active and inactive X chromosomes of kangaroos were examined by in situ nick translation. Cultured fibroblasts of subspecies wallaroo-euro (Macropus robustus robustus; Macropus robustus erubescens) hybrids were used, enabling the paternally and maternally derived X chromosomes to be distinguished. No difference was found between the active and inactive X chromosomes with DNase I or MspI digestion. When chromosomes were digested with the methylation sensitive restriction enzymes HpaII and HhaI, the inactive X chromosome was labelled to a greater extent. These results indicate no overall difference in chromatin condensation between the active and inactive X chromosomes and greater overall methylation of the active X chromosome. This relative undermethylation of the inactive X chromosome may be important in X chromosome inactivation, but its function, if any, remains to be determined.by A. Bird 相似文献
19.
Frequent derepression of G6PD and HPRT on the marsupial inactive X chromosome associated with cell proliferation in vitro 总被引:1,自引:0,他引:1
X chromosome dosage compensation in Marsupials is like that in eutherian mammals except that the paternal X chromosome is always inactive, and silence of this chromosome is not well maintained. We previously showed that the unstable inactivation of the paternal G6PD allele is associated with the lack of DNA methylation in the 5' CpG cluster. Even though this CpG island is unmethylated, the paternal allele (marked by an enzyme variant) is at least partially and often severely repressed in most tissues of the opossum, so that factors other than methylation must inactivate the locus. Here we report that when cell cultures are established from these tissues, the silent G6PD locus is depressed. Although often complete, the extent of derepression differs among tissues and within different cell types in the same tissue, and is not accompanied by obvious changes in the pattern of chromosome replication. Studies of the HPRT locus in these cells show that the paternal HPRT allele also derepresses in cultured cells. These observations suggest that without DNA methylation to maintain the silence of the locus, tissue or cell-specific factors act to repress the silent locus, but are unable to maintain inactivity through cell division, or are lost as cells proliferate in culture. 相似文献
20.
An increase in androgen receptor (AR) caused by estrogen is recognized as one of the biological phenomena related to estrogen-induced growth in uterine endometrium. The A/B region of AR gene in X chromosome involves the cytosine, adenine, and guanine (CAG) repeats. Random X chromosome inactivation with AR alleles in individual cells occurs in females. Therefore, approximately either paternal or maternal single dominant polymorphic AR mRNA must be expressed in neoplastic tissue originated from monoclone. This prompted us to determine deviated number of CAG repeats in AR mRNA to understand clonality in ovarian endometriosis. In all cases of heterozygous AR alleles, although paternal and maternal AR mRNAs from normal eutopic uterine endometrium were consistently expressed as AR alleles, either paternal or maternal single dominant AR mRNA expression was found in an individual ovarian endometrioma. Therefore, an individual ovarian endometrioma might be formed from an independent monoclonal ovarian endometriotic endometrial cell after inactivation of either AR allele in X chromosome. 相似文献