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and present an example of escape from imprinted X chromosome inactivation.\n\nSynopsis\nATRX belongs to a class of proteins that may modify how DNA is packaged into chromatin, altering the accessibility of other proteins in the nucleus to DNA. In this way, ATRX is thought to influence gene expression. Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins. Affected males (XMUTY) have multiple developmental abnormalities in a wide variety of systems. Currently, it is not understood how proteins like ATRX influence cell biology. To address this question, the authors deleted the version of the gene in mice, Atrx. Although affected male mice (XMUTY) started to develop normally, they died early in development because they failed to form a normal placenta. In the placenta, female mice normally inactivate the X chromosome that they inherit from their fathers (Xp), so if females inherit from their mother an X chromosome (Xm) that bears the abnormal copy of Atrx (XmMUTXp), one would predict that, like affected males, they would fail to form a normal placenta. The authors unexpectedly found this not to be so. They showed, instead, that in such females the normal, paternally derived Atrx gene is active. This study has therefore demonstrated an important facet of X-chromosome imprinting.\n\nIntroduction\nATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1]. It is usually associated with a mild form of α-thalassaemia, caused by reduced expression of structurally intact α-globin genes, and characterised by the presence of β-globin tetramers (haemoglobin H inclusion bodies) in peripheral red blood cells. Carrier females occasionally manifest haemoglobin H inclusions, but are otherwise intellectually and physically normal. Studies of X-chromosome inactivation in carrier females have demonstrated preferential inactivation of the chromosome bearing the abnormal allele in a variety of tissues [2], and this"}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T149","span":{"begin":39,"end":74},"obj":"GO:0060819"},{"id":"T150","span":{"begin":49,"end":61},"obj":"GO:0000805"},{"id":"T151","span":{"begin":51,"end":61},"obj":"GO_SO_EXT:chromosome"},{"id":"T587","span":{"begin":1441,"end":1442},"obj":"GO:0000805"},{"id":"T588","span":{"begin":1488,"end":1489},"obj":"GO:0000805"},{"id":"T589","span":{"begin":1669,"end":1679},"obj":"GO:0010467"},{"id":"T590","span":{"begin":1705,"end":1711},"obj":"CHEBI:5386"},{"id":"T591","span":{"begin":1712,"end":1717},"obj":"SO_EXT:0000704"},{"id":"T592","span":{"begin":1756,"end":1764},"obj":"PR_EXT:000008457"},{"id":"T593","span":{"begin":1758,"end":1764},"obj":"CHEBI:5386"},{"id":"T594","span":{"begin":1765,"end":1774},"obj":"GO_EXT:tetrameric_macromolecular_complex"},{"id":"T595","span":{"begin":1776,"end":1787},"obj":"CHEBI_GO_EXT:hemoglobin"},{"id":"T596","span":{"begin":1790,"end":1806},"obj":"GO:0016234"},{"id":"T597","span":{"begin":1822,"end":1837},"obj":"CL:0000232"},{"id":"T598","span":{"begin":1826,"end":1831},"obj":"UBERON:0000178"},{"id":"T599","span":{"begin":1832,"end":1837},"obj":"CL_GO_EXT:cell"},{"id":"T600","span":{"begin":1847,"end":1854},"obj":"PATO_UBERON_EXT:female_or_bearer_of_femaleness"},{"id":"T601","span":{"begin":1877,"end":1888},"obj":"CHEBI_GO_EXT:hemoglobin"},{"id":"T602","span":{"begin":1891,"end":1901},"obj":"GO:0016234"},{"id":"T603","span":{"begin":1970,"end":1982},"obj":"GO:0000805"},{"id":"T604","span":{"begin":1970,"end":1995},"obj":"GO:0009048"},{"id":"T605","span":{"begin":1972,"end":1982},"obj":"GO_SO_EXT:chromosome"},{"id":"T606","span":{"begin":2007,"end":2014},"obj":"PATO_UBERON_EXT:female_or_bearer_of_femaleness"},{"id":"T607","span":{"begin":2066,"end":2076},"obj":"GO_SO_EXT:chromosome"},{"id":"T608","span":{"begin":2098,"end":2104},"obj":"SO_EXT:0001023"},{"id":"T609","span":{"begin":2121,"end":2128},"obj":"UBERON:0000479"}],"text":" and present an example of escape from imprinted X chromosome inactivation.\n\nSynopsis\nATRX belongs to a class of proteins that may modify how DNA is packaged into chromatin, altering the accessibility of other proteins in the nucleus to DNA. In this way, ATRX is thought to influence gene expression. Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins. Affected males (XMUTY) have multiple developmental abnormalities in a wide variety of systems. Currently, it is not understood how proteins like ATRX influence cell biology. To address this question, the authors deleted the version of the gene in mice, Atrx. Although affected male mice (XMUTY) started to develop normally, they died early in development because they failed to form a normal placenta. In the placenta, female mice normally inactivate the X chromosome that they inherit from their fathers (Xp), so if females inherit from their mother an X chromosome (Xm) that bears the abnormal copy of Atrx (XmMUTXp), one would predict that, like affected males, they would fail to form a normal placenta. The authors unexpectedly found this not to be so. They showed, instead, that in such females the normal, paternally derived Atrx gene is active. This study has therefore demonstrated an important facet of X-chromosome imprinting.\n\nIntroduction\nATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1]. It is usually associated with a mild form of α-thalassaemia, caused by reduced expression of structurally intact α-globin genes, and characterised by the presence of β-globin tetramers (haemoglobin H inclusion bodies) in peripheral red blood cells. Carrier females occasionally manifest haemoglobin H inclusions, but are otherwise intellectually and physically normal. Studies of X-chromosome inactivation in carrier females have demonstrated preferential inactivation of the chromosome bearing the abnormal allele in a variety of tissues [2], and this"}

{"project":"2_test","denotations":[{"id":"16628246-11449489-85799734","span":{"begin":1586,"end":1587},"obj":"11449489"},{"id":"16628246-1415255-85799735","span":{"begin":2130,"end":2131},"obj":"1415255"},{"id":"T46131","span":{"begin":1586,"end":1587},"obj":"11449489"},{"id":"T38441","span":{"begin":2130,"end":2131},"obj":"1415255"}],"text":" and present an example of escape from imprinted X chromosome inactivation.\n\nSynopsis\nATRX belongs to a class of proteins that may modify how DNA is packaged into chromatin, altering the accessibility of other proteins in the nucleus to DNA. In this way, ATRX is thought to influence gene expression. Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins. Affected males (XMUTY) have multiple developmental abnormalities in a wide variety of systems. Currently, it is not understood how proteins like ATRX influence cell biology. To address this question, the authors deleted the version of the gene in mice, Atrx. Although affected male mice (XMUTY) started to develop normally, they died early in development because they failed to form a normal placenta. In the placenta, female mice normally inactivate the X chromosome that they inherit from their fathers (Xp), so if females inherit from their mother an X chromosome (Xm) that bears the abnormal copy of Atrx (XmMUTXp), one would predict that, like affected males, they would fail to form a normal placenta. The authors unexpectedly found this not to be so. They showed, instead, that in such females the normal, paternally derived Atrx gene is active. This study has therefore demonstrated an important facet of X-chromosome imprinting.\n\nIntroduction\nATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1]. It is usually associated with a mild form of α-thalassaemia, caused by reduced expression of structurally intact α-globin genes, and characterised by the presence of β-globin tetramers (haemoglobin H inclusion bodies) in peripheral red blood cells. Carrier females occasionally manifest haemoglobin H inclusions, but are otherwise intellectually and physically normal. Studies of X-chromosome inactivation in carrier females have demonstrated preferential inactivation of the chromosome bearing the abnormal allele in a variety of tissues [2], and this"}

{"project":"craft-ca-core-dev","denotations":[{"id":"T90","span":{"begin":39,"end":74},"obj":"GO:0060819"},{"id":"T91","span":{"begin":49,"end":61},"obj":"GO:0000805"},{"id":"T496","span":{"begin":1441,"end":1442},"obj":"GO:0000805"},{"id":"T497","span":{"begin":1488,"end":1489},"obj":"GO:0000805"},{"id":"T498","span":{"begin":1669,"end":1679},"obj":"GO:0010467"},{"id":"T499","span":{"begin":1705,"end":1711},"obj":"CHEBI:5386"},{"id":"T500","span":{"begin":1712,"end":1717},"obj":"SO:0000704"},{"id":"T501","span":{"begin":1756,"end":1764},"obj":"PR:000008457"},{"id":"T502","span":{"begin":1758,"end":1764},"obj":"CHEBI:5386"},{"id":"T503","span":{"begin":1790,"end":1806},"obj":"GO:0016234"},{"id":"T504","span":{"begin":1822,"end":1837},"obj":"CL:0000232"},{"id":"T505","span":{"begin":1826,"end":1831},"obj":"UBERON:0000178"},{"id":"T506","span":{"begin":1891,"end":1901},"obj":"GO:0016234"},{"id":"T507","span":{"begin":1970,"end":1982},"obj":"GO:0000805"},{"id":"T508","span":{"begin":1970,"end":1995},"obj":"GO:0009048"},{"id":"T509","span":{"begin":2098,"end":2104},"obj":"SO:0001023"},{"id":"T510","span":{"begin":2121,"end":2128},"obj":"UBERON:0000479"}],"text":" and present an example of escape from imprinted X chromosome inactivation.\n\nSynopsis\nATRX belongs to a class of proteins that may modify how DNA is packaged into chromatin, altering the accessibility of other proteins in the nucleus to DNA. In this way, ATRX is thought to influence gene expression. Mutations in the ATRX gene, which is located on the female sex chromosome (X), provided the first example of a human disease (ATR-X syndrome) associated with defects in such proteins. Affected males (XMUTY) have multiple developmental abnormalities in a wide variety of systems. Currently, it is not understood how proteins like ATRX influence cell biology. To address this question, the authors deleted the version of the gene in mice, Atrx. Although affected male mice (XMUTY) started to develop normally, they died early in development because they failed to form a normal placenta. In the placenta, female mice normally inactivate the X chromosome that they inherit from their fathers (Xp), so if females inherit from their mother an X chromosome (Xm) that bears the abnormal copy of Atrx (XmMUTXp), one would predict that, like affected males, they would fail to form a normal placenta. The authors unexpectedly found this not to be so. They showed, instead, that in such females the normal, paternally derived Atrx gene is active. This study has therefore demonstrated an important facet of X-chromosome imprinting.\n\nIntroduction\nATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1]. It is usually associated with a mild form of α-thalassaemia, caused by reduced expression of structurally intact α-globin genes, and characterised by the presence of β-globin tetramers (haemoglobin H inclusion bodies) in peripheral red blood cells. Carrier females occasionally manifest haemoglobin H inclusions, but are otherwise intellectually and physically normal. Studies of X-chromosome inactivation in carrier females have demonstrated preferential inactivation of the chromosome bearing the abnormal allele in a variety of tissues [2], and this"}