Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome
The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromos...
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| Veröffentlicht in: | Blood 1995-05, Vol.85 (9), p.2471-2477 |
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| creator | WENGLER, G GORLIN, J. B WILLIAMSON, J. M ROSEN, F. S BING, D. H |
| description | The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation. |
| doi_str_mv | 10.1182/blood.v85.9.2471.bloodjournal8592471 |
| format | Article |
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These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood.v85.9.2471.bloodjournal8592471</identifier><identifier>PMID: 7537115</identifier><language>eng</language><publisher>Washington, DC: The Americain Society of Hematology</publisher><subject>Antigens, CD - analysis ; Antigens, CD34 ; Base Sequence ; Biological and medical sciences ; Blood Cells - ultrastructure ; Dosage Compensation, Genetic ; Female ; Hematologic and hematopoietic diseases ; Hematopoietic Stem Cells - ultrastructure ; Heterozygote ; Humans ; Medical sciences ; Minisatellite Repeats ; Molecular Sequence Data ; Platelet diseases and coagulopathies ; Polymerase Chain Reaction ; Receptors, Androgen - genetics ; Wiskott-Aldrich Syndrome - genetics ; Wiskott-Aldrich Syndrome - pathology</subject><ispartof>Blood, 1995-05, Vol.85 (9), p.2471-2477</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c491t-a0a0ce8624a3e2193839f246981e88c034294d0ba04c482a0dd95b0c2ce07c73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3543854$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7537115$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>WENGLER, G</creatorcontrib><creatorcontrib>GORLIN, J. B</creatorcontrib><creatorcontrib>WILLIAMSON, J. M</creatorcontrib><creatorcontrib>ROSEN, F. S</creatorcontrib><creatorcontrib>BING, D. H</creatorcontrib><title>Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome</title><title>Blood</title><addtitle>Blood</addtitle><description>The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.</description><subject>Antigens, CD - analysis</subject><subject>Antigens, CD34</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Blood Cells - ultrastructure</subject><subject>Dosage Compensation, Genetic</subject><subject>Female</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematopoietic Stem Cells - ultrastructure</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Minisatellite Repeats</subject><subject>Molecular Sequence Data</subject><subject>Platelet diseases and coagulopathies</subject><subject>Polymerase Chain Reaction</subject><subject>Receptors, Androgen - genetics</subject><subject>Wiskott-Aldrich Syndrome - genetics</subject><subject>Wiskott-Aldrich Syndrome - pathology</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkMtu1DAUQC0EKkPhE5C8QKxIuH4l9rJqeUkVbCpgZ3mcG8bFiQfbUzR_T9KOumJhWbr36Ng6hLxj0DKm-fttTGlo77RqTctlz9r7wW065NlFrcw6e0I2THHdAHB4SjYA0DXS9Ow5eVHKLQCTgqszctYr0TOmNuTv1zRnNw9pomF2voY7V0OaaRpp3SH9Sf0upymVNOECUHQ5HmkMM7pfSHc4uZr2KWANnnqMsayQdzkHzGWV_Ajld6q1uYhDDn5Hy3EeFiG-JM9GFwu-Ot3n5Objh5vLz831t09fLi-uGy8Nq40DBx51x6UTyJkRWpiRy85ohlp7EJIbOcDWgfRScwfDYNQWPPcIve_FOXn7oN3n9OeApdoplPWjbsZ0KLbvueiU6Rbw6gH0OZWScbT7HCaXj5aBXfPb-9r2u1bW2DW1_U_-RfP69N5hO-HwKDn1XvZvTntXvIvjkt6H8ogJJYVezj9enZd3</recordid><startdate>19950501</startdate><enddate>19950501</enddate><creator>WENGLER, G</creator><creator>GORLIN, J. B</creator><creator>WILLIAMSON, J. M</creator><creator>ROSEN, F. S</creator><creator>BING, D. H</creator><general>The Americain Society of Hematology</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19950501</creationdate><title>Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome</title><author>WENGLER, G ; GORLIN, J. B ; WILLIAMSON, J. M ; ROSEN, F. S ; BING, D. H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c491t-a0a0ce8624a3e2193839f246981e88c034294d0ba04c482a0dd95b0c2ce07c73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Antigens, CD - analysis</topic><topic>Antigens, CD34</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Blood Cells - ultrastructure</topic><topic>Dosage Compensation, Genetic</topic><topic>Female</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hematopoietic Stem Cells - ultrastructure</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Minisatellite Repeats</topic><topic>Molecular Sequence Data</topic><topic>Platelet diseases and coagulopathies</topic><topic>Polymerase Chain Reaction</topic><topic>Receptors, Androgen - genetics</topic><topic>Wiskott-Aldrich Syndrome - genetics</topic><topic>Wiskott-Aldrich Syndrome - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>WENGLER, G</creatorcontrib><creatorcontrib>GORLIN, J. B</creatorcontrib><creatorcontrib>WILLIAMSON, J. M</creatorcontrib><creatorcontrib>ROSEN, F. S</creatorcontrib><creatorcontrib>BING, D. H</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>WENGLER, G</au><au>GORLIN, J. B</au><au>WILLIAMSON, J. M</au><au>ROSEN, F. S</au><au>BING, D. H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1995-05-01</date><risdate>1995</risdate><volume>85</volume><issue>9</issue><spage>2471</spage><epage>2477</epage><pages>2471-2477</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.</abstract><cop>Washington, DC</cop><pub>The Americain Society of Hematology</pub><pmid>7537115</pmid><doi>10.1182/blood.v85.9.2471.bloodjournal8592471</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-4971 |
| ispartof | Blood, 1995-05, Vol.85 (9), p.2471-2477 |
| issn | 0006-4971 1528-0020 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77236596 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Antigens, CD - analysis Antigens, CD34 Base Sequence Biological and medical sciences Blood Cells - ultrastructure Dosage Compensation, Genetic Female Hematologic and hematopoietic diseases Hematopoietic Stem Cells - ultrastructure Heterozygote Humans Medical sciences Minisatellite Repeats Molecular Sequence Data Platelet diseases and coagulopathies Polymerase Chain Reaction Receptors, Androgen - genetics Wiskott-Aldrich Syndrome - genetics Wiskott-Aldrich Syndrome - pathology |
| title | Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome |
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