TY - JOUR
T1 - Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies
AU - Grati, Francesca R.
AU - Sirchia, Silvia M.
AU - Gentilin, Barbara
AU - Rossella, Franca
AU - Ramoscelli, Lisetta
AU - Antonazzo, Patrizio
AU - Cavallari, Ugo
AU - Bulfamante, Gaetano
AU - Cetin, Irene
AU - Simoni, Giuseppe
AU - Miozzo, Monica
PY - 2004/4
Y1 - 2004/4
N2 - Equivalent levels of X-linked gene products between males and females are reached by means of X chromosome inactivation (XCI). In the human and murine embryonic tissues, both the paternally and maternally derived X chromosomes (X
P and X
M) may be inactivated. In murine extra-embryonic tissues, X
P is imprinted and always silenced; humans, unlike mice, can inactivate the X
M in extra-embryonic lineages without an adverse outcome. This difference is probably due to the presence of imprinted placental genes on the murine X chromosome, but not on the human homologue, essential for placental development and function. An example is the paternally imprinted Esx1 gene; mice with a null maternally derived Esx1 allele show intrauterine growth restriction (IUGR) because of placental insufficiency. We investigated the imprinting status of the human orthologous Esx1 gene (ESX1L) in placental samples of four normal full-term and 13 IUGR female fetuses, in which we determined the XCI pattern. Our findings demonstrated that IUGR as well as normal placentas display XCI heterogeneity, thus indicating that the IUGR phenotype is not correlated with a preferential pattern of XCI in placentas. Moreover, ESX1L is equally expressed in IUGR and normal placentas, and shows the same methylation pattern in the presence of both random and skewed XCI. These findings provide evidence that ESX1L is not imprinted in human third-trimester placentas and there is no parent-of-origin effect of chromosome X associated with placental insufficiency.
AB - Equivalent levels of X-linked gene products between males and females are reached by means of X chromosome inactivation (XCI). In the human and murine embryonic tissues, both the paternally and maternally derived X chromosomes (X
P and X
M) may be inactivated. In murine extra-embryonic tissues, X
P is imprinted and always silenced; humans, unlike mice, can inactivate the X
M in extra-embryonic lineages without an adverse outcome. This difference is probably due to the presence of imprinted placental genes on the murine X chromosome, but not on the human homologue, essential for placental development and function. An example is the paternally imprinted Esx1 gene; mice with a null maternally derived Esx1 allele show intrauterine growth restriction (IUGR) because of placental insufficiency. We investigated the imprinting status of the human orthologous Esx1 gene (ESX1L) in placental samples of four normal full-term and 13 IUGR female fetuses, in which we determined the XCI pattern. Our findings demonstrated that IUGR as well as normal placentas display XCI heterogeneity, thus indicating that the IUGR phenotype is not correlated with a preferential pattern of XCI in placentas. Moreover, ESX1L is equally expressed in IUGR and normal placentas, and shows the same methylation pattern in the presence of both random and skewed XCI. These findings provide evidence that ESX1L is not imprinted in human third-trimester placentas and there is no parent-of-origin effect of chromosome X associated with placental insufficiency.
KW - ESX1L imprinting
KW - IUGR
KW - X chromosome inactivation
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U2 - 10.1038/sj.ejhg.5201121
DO - 10.1038/sj.ejhg.5201121
M3 - Article
C2 - 14673477
AN - SCOPUS:11144357034
VL - 12
SP - 272
EP - 278
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -