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A 360-kb interchromosomal duplication of the human HYDIN locus.
Doggett, Norman A; Xie, Gary; Meincke, Linda J; Sutherland, Robert D; Mundt, Mark O; Berbari, Nicolas S; Davy, Brian E; Robinson, Michael L; Rudd, M Katharine; Weber, James L; Stallings, Raymond L; Han, Cliff.
Afiliación
  • Doggett NA; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA. Electronic address: doggett@lanl.gov.
  • Xie G; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
  • Meincke LJ; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
  • Sutherland RD; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
  • Mundt MO; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
  • Berbari NS; Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
  • Davy BE; Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
  • Robinson ML; Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
  • Rudd MK; Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, C3-168, Seattle, WA 98109, USA.
  • Weber JL; Center for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, Marshfield, WI 54449, USA.
  • Stallings RL; Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA.
  • Han C; DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Genomics ; 88(6): 762-771, 2006 Dec.
Article en En | MEDLINE | ID: mdl-16938426
ABSTRACT
The HYDIN gene located in human chromosome band 16q22.2 is a large gene encompassing 423 kb of genomic DNA that has been suggested as a candidate for an autosomal recessive form of congenital hydrocephalus. We have found that the human HYDIN locus has been very recently duplicated, with a nearly identical 360-kb paralogous segment inserted on chromosome 1q21.1. The duplication, among the largest interchromosomal segmental duplications described in humans, is not accounted for in the current human genome assembly and appears to be part of a greater than 550-kb contig that must lie within 1 of the 11 sequence gaps currently remaining in 1q21.1. Both copies of the HYDIN gene are expressed in alternatively spliced transcripts. Elucidation of the role of HYDIN in human disease susceptibility will require careful discrimination among the paralogous copies.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Cromosomas Humanos Par 16 / Duplicación de Gen / Hidrocefalia / Proteínas de Microfilamentos Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2006 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Cromosomas Humanos Par 16 / Duplicación de Gen / Hidrocefalia / Proteínas de Microfilamentos Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2006 Tipo del documento: Article