Expression level of &lt;i&gt;Rps4 &lt;/i&gt;mRNA in 39, X mice and 40, XX mice

Omoe, Katsuhiko; Endo, Akinori

doi:10.1159/000133796

Cited by 5 publications

(3 citation statements)

References 13 publications

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“…The X chromosome genes responsible for congenital heart defects in TS have not been identified, and the lack of a suitable animal model for TS has been a significant limitation. The absence of overt TS phenotypes in female mice with a single X chromosome may be attributable to differences in X inactivation or X chromosome gene content between mice and humans [Omoe and Endo, ]. The purpose of this collaborative genomic study was to investigate the effect of X chromosome gene content and common variation on congenital heart defects in TS women.…”

Section: Introductionmentioning

confidence: 99%

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

Prakash

Bondy

Maslen

et al. 2016

American J of Med Genetics Pt A

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Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14 and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS.

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Section: Introductionmentioning

confidence: 99%

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

Prakash

Bondy

Maslen

et al. 2016

American J of Med Genetics Pt A

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“…It is believed to be due to the presence in humans and absence in mice of haploinsufficiency of presumed Turner-phenotype genes (RPS4X/Rps4, ZFX/Zfx) (Ashworth et al. 1991;Zinn et al, 1991 ;Omoe and Endo, 1994). However, it has been shown that the ratio of XX to XO embryos (XX:XO) is about 2:1 in the female offspring of the XO mouse colony.…”

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confidence: 99%

Viability, development and incidence of chromosome anomalies of preimplantation embryos from XO mice

Banzai

Omoe

Ishikawa

et al. 1995

Cytogenet Genome Res

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We examined the viability and developmental status of XO embryos at preimplantation stage (day 3 of gestation) by assessing blastocyst formation and counting cell number using our XO mouse colony. We also examined the incidence of chromosome anomalies. Embryos from XO mice (XY, XX and XO) developed more slowly (in cell numbers and blastocoele formation) than those from XX mice (XY and XX). XO embryos also tended to develop more slowly than XX embryos in the XO group. Although litter size at the preimplantation stage of gestation was almost twice as large (12.7) as those at mid-gestation (7.6) and near-term (7.2) in this colony, the adjusted XY:XX:XO ratio (2.8:2.0:1.0) did not differ greatly. This indicates that almost half of the embryos must have been eliminated during the first half of gestation in the XO group, probably regardless of sex chromosome complements. Thus, we consider that maternal XO sex chromosome constitution is disadvantageous for the intrauterine development of the embryo during the early period of gestation. This may be related to precocious aging of XO mice. Further, we confirmed that a high incidence of abnormal karyotypes occurs in embryos from our XO mouse colony.

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“…The human RPS4 (ribosomal protein S4) gene is responsible for the onset of Turner syndrome because it is biallelically expressed under normal conditions [21]. In contrast, its mouse homologue, Rps4, is a gene subject to X chromosome inactivation, and its function is assured by the presence of a single allele [22]. Little information about the occurrence of XO females is available for other species, but the laboratory mouse is not the only species known to produce normal XO females.…”

Section: Resultsmentioning

confidence: 99%

Sex-Reversed Somatic Cell Cloning in the Mouse

Inoue

Ogonuki

Mekada

et al. 2009

Journal of Reproduction and Development

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Somatic cell nuclear transfer has many potential applications in the fields of basic and applied sciences. However, it has a disadvantage that can never be overcome technically-the inflexibility of the sex of the offspring. Here, we report an accidental birth of a female mouse following nuclear transfer using an immature Sertoli cell. We produced a batch of 27 clones in a nuclear transfer experiment using Sertoli cells collected from neonatal male mice. Among them, one pup was female. This "male-derived female" clone grew into a normal adult and produced offspring by natural mating with a littermate. Chromosomal analysis revealed that the female clone had a 39,X karyotype, indicating that the Y chromosome had been deleted in the donor cell or at some early step during nuclear transfer. This finding suggests the possibility of resuming sexual reproduction after a single male is cloned, which should be especially useful for reviving extinct or endangered species.

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Expression level of <i>Rps4 </i>mRNA in 39, X mice and 40, XX mice

Cited by 5 publications

References 13 publications

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

Viability, development and incidence of chromosome anomalies of preimplantation embryos from XO mice

Sex-Reversed Somatic Cell Cloning in the Mouse

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