The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
LOWE'S oculocerebrorenal syndrome 1–3 (OCRL) is a human X-linked developmental disorder of unknown pathogenesis 4–8 and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage 9–11 and by finding de novo X; autosome translocations...
Gespeichert in:
| Veröffentlicht in: | Nature (London) 1992-07, Vol.358 (6383), p.239-242 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 242 |
|---|---|
| container_issue | 6383 |
| container_start_page | 239 |
| container_title | Nature (London) |
| container_volume | 358 |
| creator | Attree, Olivier Olivos, Isabelle M. Okabe, Ichiro Bailey, L. Charles Nelson, David L. Lewis, Richard A. Mclnnes, Roderick R. Nussbaum, Robert L. |
| description | LOWE'S oculocerebrorenal syndrome
1–3
(OCRL) is a human X-linked developmental disorder of unknown pathogenesis
4–8
and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage
9–11
and by finding
de novo
X; autosome translocations at Xq25-q26 in two unrelated females with OCRL
12,13
. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism. |
| doi_str_mv | 10.1038/358239a0 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73065539</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4945007</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4190-36c91676c89716daaf4654f01d39d48fba49dbc10086557c1bcc9507a80ff17b3</originalsourceid><addsrcrecordid>eNqFkU2LFDEQhoMo6-wo-AeEILLqobUy-eyjLH7BgJf13KTT1dO9pJM26Vbm3xuZWRf04KkK3qeqXuol5BmDtwy4ecel2fHawgOyYUKrSiijH5INwM5UYLh6TC5zvgUAybS4IBeM7xgXakN-3AxI9_Envso0utVHhwnbFBMG62k-hi7FCekBA1IMLnaYqaVziguOgQ7jYfBHOsQp-niIa6ZLpGOIeVyip3P0x3mIeR7sgpWs7nqb8Ql51Fuf8em5bsm3jx9urj9X-6-fvly_31dOsBoqrlzNlFbO1JqpztpeKCl6YB2vO2H61oq6ax0DMEpK7VjrXC1BWwN9z3TLt-TqtLc4_r5iXpppzA69twGL3UZzKIO8_i_IFAdg5clb8uIv8DauqTwrNzsQovjjskCvT5BLMeeEfTOncbLp2DBofgfW3AVW0OfnfWs7YXcPnhIq-suzbrOzvk82uDH_wSTXghlesDcnLBclHDDd2_rn5C-aKKqX</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>204446535</pqid></control><display><type>article</type><title>The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>Nature Journals Online</source><creator>Attree, Olivier ; Olivos, Isabelle M. ; Okabe, Ichiro ; Bailey, L. Charles ; Nelson, David L. ; Lewis, Richard A. ; Mclnnes, Roderick R. ; Nussbaum, Robert L.</creator><creatorcontrib>Attree, Olivier ; Olivos, Isabelle M. ; Okabe, Ichiro ; Bailey, L. Charles ; Nelson, David L. ; Lewis, Richard A. ; Mclnnes, Roderick R. ; Nussbaum, Robert L.</creatorcontrib><description>LOWE'S oculocerebrorenal syndrome
1–3
(OCRL) is a human X-linked developmental disorder of unknown pathogenesis
4–8
and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage
9–11
and by finding
de novo
X; autosome translocations at Xq25-q26 in two unrelated females with OCRL
12,13
. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>DOI: 10.1038/358239a0</identifier><identifier>PMID: 1321346</identifier><identifier>CODEN: NATUAS</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; cDNA ; Chromosomes ; DNA - genetics ; DNA - isolation & purification ; Female ; Gene Library ; Genetic Linkage ; Genetics ; Humanities and Social Sciences ; Humans ; inositol phosphate ; Inositol Polyphosphate 5-Phosphatases ; inositol polyphosphate-5-phosphatase ; letter ; Lowe's oculocerebrorenal syndrome ; Male ; man ; Medical disorders ; Medical sciences ; metabolism ; Molecular Sequence Data ; multidisciplinary ; Nephrology. Urinary tract diseases ; Nephropathies. Renovascular diseases. Renal failure ; Oculocerebrorenal Syndrome - genetics ; Phosphoric Monoester Hydrolases - genetics ; predictions ; Proteins - genetics ; Science ; Sequence Homology, Nucleic Acid ; Translocation ; Translocation, Genetic ; Tubulopathies ; X Chromosome ; yeast artificial chromosomes ; Yeasts</subject><ispartof>Nature (London), 1992-07, Vol.358 (6383), p.239-242</ispartof><rights>Springer Nature Limited 1992</rights><rights>1992 INIST-CNRS</rights><rights>Copyright Macmillan Journals Ltd. Jul 16, 1992</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4190-36c91676c89716daaf4654f01d39d48fba49dbc10086557c1bcc9507a80ff17b3</citedby><cites>FETCH-LOGICAL-c4190-36c91676c89716daaf4654f01d39d48fba49dbc10086557c1bcc9507a80ff17b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/358239a0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/358239a0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5374183$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1321346$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Attree, Olivier</creatorcontrib><creatorcontrib>Olivos, Isabelle M.</creatorcontrib><creatorcontrib>Okabe, Ichiro</creatorcontrib><creatorcontrib>Bailey, L. Charles</creatorcontrib><creatorcontrib>Nelson, David L.</creatorcontrib><creatorcontrib>Lewis, Richard A.</creatorcontrib><creatorcontrib>Mclnnes, Roderick R.</creatorcontrib><creatorcontrib>Nussbaum, Robert L.</creatorcontrib><title>The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase</title><title>Nature (London)</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>LOWE'S oculocerebrorenal syndrome
1–3
(OCRL) is a human X-linked developmental disorder of unknown pathogenesis
4–8
and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage
9–11
and by finding
de novo
X; autosome translocations at Xq25-q26 in two unrelated females with OCRL
12,13
. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism.</description><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>cDNA</subject><subject>Chromosomes</subject><subject>DNA - genetics</subject><subject>DNA - isolation & purification</subject><subject>Female</subject><subject>Gene Library</subject><subject>Genetic Linkage</subject><subject>Genetics</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>inositol phosphate</subject><subject>Inositol Polyphosphate 5-Phosphatases</subject><subject>inositol polyphosphate-5-phosphatase</subject><subject>letter</subject><subject>Lowe's oculocerebrorenal syndrome</subject><subject>Male</subject><subject>man</subject><subject>Medical disorders</subject><subject>Medical sciences</subject><subject>metabolism</subject><subject>Molecular Sequence Data</subject><subject>multidisciplinary</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Nephropathies. Renovascular diseases. Renal failure</subject><subject>Oculocerebrorenal Syndrome - genetics</subject><subject>Phosphoric Monoester Hydrolases - genetics</subject><subject>predictions</subject><subject>Proteins - genetics</subject><subject>Science</subject><subject>Sequence Homology, Nucleic Acid</subject><subject>Translocation</subject><subject>Translocation, Genetic</subject><subject>Tubulopathies</subject><subject>X Chromosome</subject><subject>yeast artificial chromosomes</subject><subject>Yeasts</subject><issn>0028-0836</issn><issn>1476-4687</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkU2LFDEQhoMo6-wo-AeEILLqobUy-eyjLH7BgJf13KTT1dO9pJM26Vbm3xuZWRf04KkK3qeqXuol5BmDtwy4ecel2fHawgOyYUKrSiijH5INwM5UYLh6TC5zvgUAybS4IBeM7xgXakN-3AxI9_Envso0utVHhwnbFBMG62k-hi7FCekBA1IMLnaYqaVziguOgQ7jYfBHOsQp-niIa6ZLpGOIeVyip3P0x3mIeR7sgpWs7nqb8Ql51Fuf8em5bsm3jx9urj9X-6-fvly_31dOsBoqrlzNlFbO1JqpztpeKCl6YB2vO2H61oq6ax0DMEpK7VjrXC1BWwN9z3TLt-TqtLc4_r5iXpppzA69twGL3UZzKIO8_i_IFAdg5clb8uIv8DauqTwrNzsQovjjskCvT5BLMeeEfTOncbLp2DBofgfW3AVW0OfnfWs7YXcPnhIq-suzbrOzvk82uDH_wSTXghlesDcnLBclHDDd2_rn5C-aKKqX</recordid><startdate>19920716</startdate><enddate>19920716</enddate><creator>Attree, Olivier</creator><creator>Olivos, Isabelle M.</creator><creator>Okabe, Ichiro</creator><creator>Bailey, L. Charles</creator><creator>Nelson, David L.</creator><creator>Lewis, Richard A.</creator><creator>Mclnnes, Roderick R.</creator><creator>Nussbaum, Robert L.</creator><general>Nature Publishing Group UK</general><general>Nature Publishing</general><general>Nature Publishing Group</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>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7ST</scope><scope>7T5</scope><scope>7TG</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PCBAR</scope><scope>PDBOC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>Q9U</scope><scope>R05</scope><scope>RC3</scope><scope>S0X</scope><scope>SOI</scope><scope>7T3</scope><scope>M81</scope><scope>7X8</scope></search><sort><creationdate>19920716</creationdate><title>The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase</title><author>Attree, Olivier ; Olivos, Isabelle M. ; Okabe, Ichiro ; Bailey, L. Charles ; Nelson, David L. ; Lewis, Richard A. ; Mclnnes, Roderick R. ; Nussbaum, Robert L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4190-36c91676c89716daaf4654f01d39d48fba49dbc10086557c1bcc9507a80ff17b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Amino Acid Sequence</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>cDNA</topic><topic>Chromosomes</topic><topic>DNA - genetics</topic><topic>DNA - isolation & purification</topic><topic>Female</topic><topic>Gene Library</topic><topic>Genetic Linkage</topic><topic>Genetics</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>inositol phosphate</topic><topic>Inositol Polyphosphate 5-Phosphatases</topic><topic>inositol polyphosphate-5-phosphatase</topic><topic>letter</topic><topic>Lowe's oculocerebrorenal syndrome</topic><topic>Male</topic><topic>man</topic><topic>Medical disorders</topic><topic>Medical sciences</topic><topic>metabolism</topic><topic>Molecular Sequence Data</topic><topic>multidisciplinary</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>Oculocerebrorenal Syndrome - genetics</topic><topic>Phosphoric Monoester Hydrolases - genetics</topic><topic>predictions</topic><topic>Proteins - genetics</topic><topic>Science</topic><topic>Sequence Homology, Nucleic Acid</topic><topic>Translocation</topic><topic>Translocation, Genetic</topic><topic>Tubulopathies</topic><topic>X Chromosome</topic><topic>yeast artificial chromosomes</topic><topic>Yeasts</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Attree, Olivier</creatorcontrib><creatorcontrib>Olivos, Isabelle M.</creatorcontrib><creatorcontrib>Okabe, Ichiro</creatorcontrib><creatorcontrib>Bailey, L. Charles</creatorcontrib><creatorcontrib>Nelson, David L.</creatorcontrib><creatorcontrib>Lewis, Richard A.</creatorcontrib><creatorcontrib>Mclnnes, Roderick R.</creatorcontrib><creatorcontrib>Nussbaum, Robert L.</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>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Environment Abstracts</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>Materials Science Collection</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>ProQuest Central Basic</collection><collection>University of Michigan</collection><collection>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>Environment Abstracts</collection><collection>Human Genome Abstracts</collection><collection>Biochemistry Abstracts 3</collection><collection>MEDLINE - Academic</collection><jtitle>Nature (London)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Attree, Olivier</au><au>Olivos, Isabelle M.</au><au>Okabe, Ichiro</au><au>Bailey, L. Charles</au><au>Nelson, David L.</au><au>Lewis, Richard A.</au><au>Mclnnes, Roderick R.</au><au>Nussbaum, Robert L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase</atitle><jtitle>Nature (London)</jtitle><stitle>Nature</stitle><addtitle>Nature</addtitle><date>1992-07-16</date><risdate>1992</risdate><volume>358</volume><issue>6383</issue><spage>239</spage><epage>242</epage><pages>239-242</pages><issn>0028-0836</issn><eissn>1476-4687</eissn><coden>NATUAS</coden><abstract>LOWE'S oculocerebrorenal syndrome
1–3
(OCRL) is a human X-linked developmental disorder of unknown pathogenesis
4–8
and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage
9–11
and by finding
de novo
X; autosome translocations at Xq25-q26 in two unrelated females with OCRL
12,13
. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>1321346</pmid><doi>10.1038/358239a0</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-0836 |
| ispartof | Nature (London), 1992-07, Vol.358 (6383), p.239-242 |
| issn | 0028-0836 1476-4687 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73065539 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Amino Acid Sequence Base Sequence Biological and medical sciences cDNA Chromosomes DNA - genetics DNA - isolation & purification Female Gene Library Genetic Linkage Genetics Humanities and Social Sciences Humans inositol phosphate Inositol Polyphosphate 5-Phosphatases inositol polyphosphate-5-phosphatase letter Lowe's oculocerebrorenal syndrome Male man Medical disorders Medical sciences metabolism Molecular Sequence Data multidisciplinary Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Oculocerebrorenal Syndrome - genetics Phosphoric Monoester Hydrolases - genetics predictions Proteins - genetics Science Sequence Homology, Nucleic Acid Translocation Translocation, Genetic Tubulopathies X Chromosome yeast artificial chromosomes Yeasts |
| title | The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-11T00%3A15%3A03IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20Lowe's%20oculocerebrorenal%20syndrome%20gene%20encodes%20a%20protein%20highly%20homologous%20to%20inositol%20polyphosphate-5-phosphatase&rft.jtitle=Nature%20(London)&rft.au=Attree,%20Olivier&rft.date=1992-07-16&rft.volume=358&rft.issue=6383&rft.spage=239&rft.epage=242&rft.pages=239-242&rft.issn=0028-0836&rft.eissn=1476-4687&rft.coden=NATUAS&rft_id=info:doi/10.1038/358239a0&rft_dat=%3Cproquest_cross%3E4945007%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=204446535&rft_id=info:pmid/1321346&rfr_iscdi=true |