Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
Menkes disease is a lethal–X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isol...
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Veröffentlicht in: | Nature genetics 1993-01, Vol.3 (1), p.14-19 |
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creator | Chelly, Jamel Tümer, Zeynep Tønnesen, Tønne Petterson, Anne Ishikawa-Brush, Yumiko Tommerup, Niels Horn, Nina Monaco, Anthony P. |
description | Menkes disease is a lethal–X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals. |
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We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng0193-14</identifier><identifier>PMID: 8490646</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Adenosine Triphosphatases - genetics ; Adenosine Triphosphatases - metabolism ; Agriculture ; Amino Acid Sequence ; Animal Genetics and Genomics ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Blotting, Southern ; Cancer Research ; Carrier Proteins - genetics ; Carrier Proteins - metabolism ; Cation Transport Proteins ; cDNA ; Cells, Cultured ; Cloning, Molecular ; Copper-transporting ATPases ; DNA ; Female ; Gene Function ; genes ; genes products ; heavy metal-binding protein ; Human Genetics ; Humans ; Male ; man ; Menkes disease ; Menkes Kinky Hair Syndrome - genetics ; Metals - metabolism ; Molecular Sequence Data ; nucleotide sequence ; predictions ; Recombinant Fusion Proteins ; Sequence Homology, Amino Acid ; X Chromosome</subject><ispartof>Nature genetics, 1993-01, Vol.3 (1), p.14-19</ispartof><rights>Springer Nature America, Inc. 1993</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c346t-1eca7f57c8ba920bca12cff2619f93a34415331c1979d8dacb7f096620db1cdd3</citedby><cites>FETCH-LOGICAL-c346t-1eca7f57c8ba920bca12cff2619f93a34415331c1979d8dacb7f096620db1cdd3</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/ng0193-14$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng0193-14$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8490646$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chelly, Jamel</creatorcontrib><creatorcontrib>Tümer, Zeynep</creatorcontrib><creatorcontrib>Tønnesen, Tønne</creatorcontrib><creatorcontrib>Petterson, Anne</creatorcontrib><creatorcontrib>Ishikawa-Brush, Yumiko</creatorcontrib><creatorcontrib>Tommerup, Niels</creatorcontrib><creatorcontrib>Horn, Nina</creatorcontrib><creatorcontrib>Monaco, Anthony P.</creatorcontrib><title>Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Menkes disease is a lethal–X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Adenosine Triphosphatases - metabolism</subject><subject>Agriculture</subject><subject>Amino Acid Sequence</subject><subject>Animal Genetics and Genomics</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Blotting, Southern</subject><subject>Cancer Research</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - metabolism</subject><subject>Cation Transport Proteins</subject><subject>cDNA</subject><subject>Cells, Cultured</subject><subject>Cloning, Molecular</subject><subject>Copper-transporting ATPases</subject><subject>DNA</subject><subject>Female</subject><subject>Gene Function</subject><subject>genes</subject><subject>genes products</subject><subject>heavy metal-binding protein</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>Menkes disease</subject><subject>Menkes Kinky Hair Syndrome - genetics</subject><subject>Metals - metabolism</subject><subject>Molecular Sequence Data</subject><subject>nucleotide sequence</subject><subject>predictions</subject><subject>Recombinant Fusion Proteins</subject><subject>Sequence Homology, Amino Acid</subject><subject>X Chromosome</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LxDAQhoMofh_8AUJOgkI106RpexTxCxQvei7TZLJWu8naZAX_vZFdPAmeZpjn4R14GTsCcQ5CNhd-JqCVBagNtguV0gXU0GzmXWgolJB6h-3F-CYEKCWabbbdqFZopXcZ3ccwYhqC58Fx5Aa9HSwm4jPyxF2Y-CP5d4rcDpEwEk-vmDh5E2w-Il-ERD4NOPJXws8vPqeU937IMX7GF1PGgz9gWw7HSIfruc9ebq6fr-6Kh6fb-6vLh8JIpVMBZLB2VW2aHttS9AahNM6VGlrXSpRKQSUlGGjr1jYWTV870WpdCtuDsVbus5NVbv77saSYuvkQDY0jegrL2NVVLaWu4F8RtCplpX_E05VophDjRK5bTMMcp68ORPfTfbfqvgOV3eN16LKfk_0112VnfrbiMRM_o6l7C8vJ50L-CPsG-l-NYg</recordid><startdate>19930101</startdate><enddate>19930101</enddate><creator>Chelly, Jamel</creator><creator>Tümer, Zeynep</creator><creator>Tønnesen, Tønne</creator><creator>Petterson, Anne</creator><creator>Ishikawa-Brush, Yumiko</creator><creator>Tommerup, Niels</creator><creator>Horn, Nina</creator><creator>Monaco, Anthony P.</creator><general>Springer US</general><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>7QL</scope><scope>7T3</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>M81</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19930101</creationdate><title>Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein</title><author>Chelly, Jamel ; 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We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>8490646</pmid><doi>10.1038/ng0193-14</doi><tpages>6</tpages></addata></record> |
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subjects | Adenosine Triphosphatases - genetics Adenosine Triphosphatases - metabolism Agriculture Amino Acid Sequence Animal Genetics and Genomics Base Sequence Biomedical and Life Sciences Biomedicine Blotting, Southern Cancer Research Carrier Proteins - genetics Carrier Proteins - metabolism Cation Transport Proteins cDNA Cells, Cultured Cloning, Molecular Copper-transporting ATPases DNA Female Gene Function genes genes products heavy metal-binding protein Human Genetics Humans Male man Menkes disease Menkes Kinky Hair Syndrome - genetics Metals - metabolism Molecular Sequence Data nucleotide sequence predictions Recombinant Fusion Proteins Sequence Homology, Amino Acid X Chromosome |
title | Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein |
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