ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Identifieur interne : 009A91 ( Main/Exploration ); précédent : 009A90; suivant : 009A92ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Auteurs : Dorien Lugtenberg [Pays-Bas] ; Helger G. Yntema [Pays-Bas] ; Martijn J. G. Banning [Pays-Bas] ; Astrid R. Oudakker [Pays-Bas] ; Helen V. Firth [Royaume-Uni] ; Lionel Willatt [Royaume-Uni] ; Martine Raynaud [France] ; Tjitske Kleefstra [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Hans-Hilger Ropers [Allemagne] ; Jamel Chelly [France] ; Claude Moraine [France] ; Jozef Gecz [Australie] ; Jeroen Van Reeuwijk [Pays-Bas] ; Sander B. Nabuurs [Pays-Bas] ; Bert B. A. De Vries [Pays-Bas] ; Ben C. J. Hamel [Pays-Bas] ; Arjan P. M. De Brouwer [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas]Source :
- American journal of human genetics [ 0002-9297 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked contiguous gene syndrome. Hybridization of full-coverage X-chromosomal bacterial artificial chromosome arrays revealed a deletion of ∼1 Mb in Xp11.3, which harbors RP2, SLC9A7, CHST7, and two hypothetical zinc-finger genes, ZNF673 and ZNF674. These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xpll.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. This mutation is predicted to result in a truncated protein containing the Krüppel-associated box domains but lacking the zinc-finger domains, which are crucial for DNA binding. We characterized the complete ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing. Two amino acid substitutions, p.T343M and p.P412L, were identified that were not found in unaffected individuals. The proline at position 412 is conserved between species and is predicted by molecular modeling to reduce the DNA-binding properties of ZNF674. The p.T343M transition is probably a polymorphism, because the homologous ZNF674 gene in chimpanzee has a methionine at that position. ZNF674 belongs to a cluster of seven highly related zinc-finger genes in Xpll, two of which (ZNF41 and ZNF81) were implicated previously in XLMR. Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas, Royaume-Uni
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 004572
- to stream PascalFrancis, to step Curation: 001B23
- to stream PascalFrancis, to step Checkpoint: 003B33
- to stream Main, to step Merge: 00A555
- to stream Main, to step Curation: 009A91
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation</title><author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Banning, Martijn J G" sort="Banning, Martijn J G" uniqKey="Banning M" first="Martijn J. G." last="Banning">Martijn J. G. Banning</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Firth, Helen V" sort="Firth, Helen V" uniqKey="Firth H" first="Helen V." last="Firth">Helen V. Firth</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Genetics, Addenbrooke's Hospital</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Willatt, Lionel" sort="Willatt, Lionel" uniqKey="Willatt L" first="Lionel" last="Willatt">Lionel Willatt</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Genetics, Addenbrooke's Hospital</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service de Génétique et INSERM U316, Hôpital Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Human Genetics, University of Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>9 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>INSERM 129-ICGM, Faculté de Médecine Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service de Génétique et INSERM U316, Hôpital Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Nabuurs, Sander B" sort="Nabuurs, Sander B" uniqKey="Nabuurs S" first="Sander B." last="Nabuurs">Sander B. Nabuurs</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0100281</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0100281 INIST</idno><idno type="RBID">Pascal:06-0100281</idno><idno type="wicri:Area/PascalFrancis/Corpus">004572</idno><idno type="wicri:Area/PascalFrancis/Curation">001B23</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003B33</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003B33</idno><idno type="wicri:doubleKey">0002-9297:2006:Lugtenberg D:znf:a:new</idno><idno type="wicri:Area/Main/Merge">00A555</idno><idno type="wicri:Area/Main/Curation">009A91</idno><idno type="wicri:Area/Main/Exploration">009A91</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation</title><author><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Banning, Martijn J G" sort="Banning, Martijn J G" uniqKey="Banning M" first="Martijn J. G." last="Banning">Martijn J. G. Banning</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Firth, Helen V" sort="Firth, Helen V" uniqKey="Firth H" first="Helen V." last="Firth">Helen V. Firth</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Genetics, Addenbrooke's Hospital</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Willatt, Lionel" sort="Willatt, Lionel" uniqKey="Willatt L" first="Lionel" last="Willatt">Lionel Willatt</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Genetics, Addenbrooke's Hospital</s1><s2>Cambridge</s2><s3>GBR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service de Génétique et INSERM U316, Hôpital Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Human Genetics, University of Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>9 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Max Planck Institute for Molecular Genetics</s1><s2>Berlin</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>INSERM 129-ICGM, Faculté de Médecine Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service de Génétique et INSERM U316, Hôpital Bretonneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Paediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Nabuurs, Sander B" sort="Nabuurs, Sander B" uniqKey="Nabuurs S" first="Sander B." last="Nabuurs">Sander B. Nabuurs</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Department of Human Genetics, Radboud University Nijmegen Medical Centre</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term><term>Genetic disease</term><term>Genetics</term><term>Human</term><term>Mental retardation</term><term>Sex linked character</term><term>Structural unit</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term><term>Motif structural</term><term>Gène</term><term>Maladie héréditaire</term><term>Chromosome X</term><term>Caractère lié au sexe</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked contiguous gene syndrome. Hybridization of full-coverage X-chromosomal bacterial artificial chromosome arrays revealed a deletion of ∼1 Mb in Xp11.3, which harbors RP2, SLC9A7, CHST7, and two hypothetical zinc-finger genes, ZNF673 and ZNF674. These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xpll.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. This mutation is predicted to result in a truncated protein containing the Krüppel-associated box domains but lacking the zinc-finger domains, which are crucial for DNA binding. We characterized the complete ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing. Two amino acid substitutions, p.T343M and p.P412L, were identified that were not found in unaffected individuals. The proline at position 412 is conserved between species and is predicted by molecular modeling to reduce the DNA-binding properties of ZNF674. The p.T343M transition is probably a polymorphism, because the homologous ZNF674 gene in chimpanzee has a methionine at that position. ZNF674 belongs to a cluster of seven highly related zinc-finger genes in Xpll, two of which (ZNF41 and ZNF81) were implicated previously in XLMR. Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Lugtenberg, Dorien" sort="Lugtenberg, Dorien" uniqKey="Lugtenberg D" first="Dorien" last="Lugtenberg">Dorien Lugtenberg</name></noRegion><name sortKey="Banning, Martijn J G" sort="Banning, Martijn J G" uniqKey="Banning M" first="Martijn J. G." last="Banning">Martijn J. G. Banning</name><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><name sortKey="Nabuurs, Sander B" sort="Nabuurs, Sander B" uniqKey="Nabuurs S" first="Sander B." last="Nabuurs">Sander B. Nabuurs</name><name sortKey="Oudakker, Astrid R" sort="Oudakker, Astrid R" uniqKey="Oudakker A" first="Astrid R." last="Oudakker">Astrid R. Oudakker</name><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><name sortKey="Van Reeuwijk, Jeroen" sort="Van Reeuwijk, Jeroen" uniqKey="Van Reeuwijk J" first="Jeroen" last="Van Reeuwijk">Jeroen Van Reeuwijk</name><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Firth, Helen V" sort="Firth, Helen V" uniqKey="Firth H" first="Helen V." last="Firth">Helen V. Firth</name></noRegion><name sortKey="Willatt, Lionel" sort="Willatt, Lionel" uniqKey="Willatt L" first="Lionel" last="Willatt">Lionel Willatt</name></country><country name="France"><region name="Centre-Val de Loire"><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></region><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country><country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></noRegion></country><country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name></region></country><country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009A91 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009A91 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:06-0100281
|texte= ZNF674 : A new Krüppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
}}
| This area was generated with Dilib version V0.6.33. |  |