title: A 360-kb interchromosomal duplication of the human HYDIN locus.
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.
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA. Electronic address: doggett@lanl.gov.
authors.forename: Norman A
authors.initials: NA
authors.lastname: Doggett
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Xie
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
authors.forename: Linda J
authors.initials: LJ
authors.lastname: Meincke
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Sutherland
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
authors.forename: Mark O
authors.initials: MO
authors.lastname: Mundt
authors.affiliation: Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
authors.forename: Nicolas S
authors.initials: NS
authors.lastname: Berbari
authors.affiliation: Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
authors.forename: Brian E
authors.initials: BE
authors.lastname: Davy
authors.affiliation: Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Robinson
authors.affiliation: Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, C3-168, Seattle, WA 98109, USA.
authors.forename: M Katharine
authors.initials: MK
authors.lastname: Rudd
authors.affiliation: Center for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, Marshfield, WI 54449, USA.
authors.forename: James L
authors.initials: JL
authors.lastname: Weber
authors.affiliation: Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA.
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Stallings
authors.affiliation: DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
authors.forename: Cliff
authors.initials: C
authors.lastname: Han
mesh_terms: D000818:Animals; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D019295:Computational Biology; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008840:Microfilament Proteins / Q000235:genetics*; D020161:Physical Chromosome Mapping
chemical_list: C481382:Hydin protein, mouse; D008840:Microfilament Proteins