A 360-kb interchromosomal duplication of the human HYDIN locus.
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.
Doggett
Norman A
NA
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA. Electronic address: doggett@lanl.gov.
Xie
Gary
G
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Meincke
Linda J
LJ
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Sutherland
Robert D
RD
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Mundt
Mark O
MO
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
Berbari
Nicolas S
NS
Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
Davy
Brian E
BE
Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
Robinson
Michael L
ML
Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
Rudd
M Katharine
MK
Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, C3-168, Seattle, WA 98109, USA.
Weber
James L
JL
Center for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, Marshfield, WI 54449, USA.
Stallings
Raymond L
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
Cliff
C
DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.
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
C481382:Hydin protein, mouse; D008840:Microfilament Proteins