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Selection against lethal alleles in females heterozygous for incontinentia pigmenti
Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methyl...
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| Published in: | American journal of human genetics 1989, Vol.44 (1), p.100-106 |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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| container_end_page | 106 |
| container_issue | 1 |
| container_start_page | 100 |
| container_title | American journal of human genetics |
| container_volume | 44 |
| creator | MIGEON, B. R AXELMAN, J DE BEUR, S. J VALLE, D MITCHELL, G. A ROSENBAUM, K. N |
| description | Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females. |
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R ; AXELMAN, J ; DE BEUR, S. J ; VALLE, D ; MITCHELL, G. A ; ROSENBAUM, K. N</creator><creatorcontrib>MIGEON, B. R ; AXELMAN, J ; DE BEUR, S. J ; VALLE, D ; MITCHELL, G. A ; ROSENBAUM, K. N</creatorcontrib><description>Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 2562819</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child, Preschool ; Dermatology ; DNA Probes ; Female ; Genes, Lethal ; Genetic Markers ; Glucosephosphate Dehydrogenase - genetics ; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue ; Heterozygote ; Humans ; Incontinentia Pigmenti - genetics ; Infant ; Male ; Medical sciences ; Middle Aged ; Pedigree ; Phenotype ; Pigmentation Disorders - genetics ; Polymorphism, Restriction Fragment Length ; Selection, Genetic</subject><ispartof>American journal of human genetics, 1989, Vol.44 (1), p.100-106</ispartof><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715454/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715454/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,733,786,790,891,4043,53827,53829</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19719227$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2562819$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>MIGEON, B. R</creatorcontrib><creatorcontrib>AXELMAN, J</creatorcontrib><creatorcontrib>DE BEUR, S. J</creatorcontrib><creatorcontrib>VALLE, D</creatorcontrib><creatorcontrib>MITCHELL, G. A</creatorcontrib><creatorcontrib>ROSENBAUM, K. N</creatorcontrib><title>Selection against lethal alleles in females heterozygous for incontinentia pigmenti</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Dermatology</subject><subject>DNA Probes</subject><subject>Female</subject><subject>Genes, Lethal</subject><subject>Genetic Markers</subject><subject>Glucosephosphate Dehydrogenase - genetics</subject><subject>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Incontinentia Pigmenti - genetics</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Pigmentation Disorders - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Selection, Genetic</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><recordid>eNqFkE1LxDAQhoso67r6E4Re9FbIR9O0F0EWv2DBw-q5zKaTbiRNatMV1l9vFovoycvMwPPyzjtzlMyp4DIrCiKOkzkhhGUVq-RpchbCGyGUloTPkhkTBStpNU_Wa7SoRuNdCi0YF8bU4rgFm4K1EYXUuFRjB4dxiyMO_nPf-l1ItR8iU96NxmEskPam7Q7TeXKiwQa8mPoieb2_e1k-Zqvnh6fl7SrrOWNjhlXDckCuJVRSFxRQaI55A7qAJipEkzOlCqkaqZUCrimyhsuGbjY5B4V8kdx8-_a7TYeNirsHsHU_mA6Gfe3B1H-JM9u69R81lVTkIo8G15PB4N93GMa6M0GhteAwnljLsqSFYP8LqWCESEai8PJ3pJ8s078jv5o4BAVWD-CUCT8yWklaMSb5F5gQjik</recordid><startdate>1989</startdate><enddate>1989</enddate><creator>MIGEON, B. 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N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p322t-e9d24ae3f7a97f61ae5f3e4daf6ad3225d42cc67cd7fcca3f1e2d37d1bb43ace3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Dermatology</topic><topic>DNA Probes</topic><topic>Female</topic><topic>Genes, Lethal</topic><topic>Genetic Markers</topic><topic>Glucosephosphate Dehydrogenase - genetics</topic><topic>Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Incontinentia Pigmenti - genetics</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Pigmentation Disorders - genetics</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Selection, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>MIGEON, B. R</creatorcontrib><creatorcontrib>AXELMAN, J</creatorcontrib><creatorcontrib>DE BEUR, S. J</creatorcontrib><creatorcontrib>VALLE, D</creatorcontrib><creatorcontrib>MITCHELL, G. A</creatorcontrib><creatorcontrib>ROSENBAUM, K. 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N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Selection against lethal alleles in females heterozygous for incontinentia pigmenti</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1989</date><risdate>1989</risdate><volume>44</volume><issue>1</issue><spage>100</spage><epage>106</epage><pages>100-106</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><notes>ObjectType-Article-2</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-1</notes><notes>content type line 23</notes><notes>ObjectType-Article-1</notes><notes>ObjectType-Feature-2</notes><abstract>Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analysis was carried out using G6PD variants and methylation patterns at the HPRT locus. Our results confirm X linkage in these families and suggest that selection against cells expressing mutations that are lethal to males in utero may help ameliorate the deleterious phenotype in carrier females.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>2562819</pmid><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1989, Vol.44 (1), p.100-106 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1715454 |
| source | PubMed (Medline) |
| subjects | Adolescent Adult Biological and medical sciences Child, Preschool Dermatology DNA Probes Female Genes, Lethal Genetic Markers Glucosephosphate Dehydrogenase - genetics Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Heterozygote Humans Incontinentia Pigmenti - genetics Infant Male Medical sciences Middle Aged Pedigree Phenotype Pigmentation Disorders - genetics Polymorphism, Restriction Fragment Length Selection, Genetic |
| title | Selection against lethal alleles in females heterozygous for incontinentia pigmenti |
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