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Characterization of allele-specific expression of the X-linked gene MAO-A in trophectoderm cells of bovine embryos produced by somatic cell nuclear transfer
(Funpec-editora, 2015-01-01)
Somatic cell nuclear transfer (SCNT) may affect epigenetic mechanisms and alter the expression of genes related to embryo development and X chromosome inactivation (XCI). We characterized allele-specific expression of the ...
Homomorphic Sex Chromosomes and the Intriguing Y Chromosome of Ctenomys Rodent Species (Rodentia, Ctenomyidae)
(Karger, 2014-01-01)
Unlike the X chromosome, the mammalian Y chromosome undergoes evolutionary decay resulting in small size. This sex chromosomal heteromorphism, observed in most species of the fossorial rodent Ctenomys, contrasts with the ...
DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER
(Springer, 1993-05-01)
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> ...
DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER
(Springer, 1993-05-01)
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> ...
X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate
(Wiley-Blackwell, 2007-12-15)
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of ...
Symptomatic female carriers of Duchenne Muscular Dystrophy (DMD): genetic and clinical characterization
(Elsevier, 2014-01-15)
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers ...
Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
(Associação Brasileira de Divulgação Científica, 2008)
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex ...
5meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation
(Public Library of Science, 2014-07)
X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female eutherian mammals. XCI assures monoallelic expression in each cell ...
Dynamic sex chromosome expression in Drosophila male germ cells
(2021-12-01)
Given their copy number differences and unique modes of inheritance, the evolved gene content and expression of sex chromosomes is unusual. In many organisms the X and Y chromosomes are inactivated in spermatocytes, possibly ...