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PMID: 16938426 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S.

A 360-kb interchromosomal duplication of the human HYDIN locus.

Genomics ·Vol. 88 ·No. 6 ·2006-12-00 ·Pages 762-771

Doggett NA, Xie G, Meincke LJ, Sutherland RD, Mundt MO, Berbari NS, Davy BE, Robinson ML, Rudd MK, Weber JL, Stallings RL, Han C

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.

MeSH Terms

Animals Chromosomes, Human, Pair 1/genetics Chromosomes, Human, Pair 16/genetics Computational Biology Gene Duplication Genome, Human Humans Hydrocephalus/genetics In Situ Hybridization, Fluorescence Mice Microfilament Proteins/genetics Physical Chromosome Mapping

Chemicals

Hydin protein, mouse Microfilament Proteins

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Doggett Norman A

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA. Electronic address: doggett@lanl.gov.

Xie Gary

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.

Meincke Linda J

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.

Sutherland Robert D

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.

Mundt Mark O

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.

Berbari Nicolas S

Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.

Davy Brian E

Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.

Robinson Michael L

Division of Molecular and Human Genetics, Children's Research Institute, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.

Rudd M Katharine

Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, C3-168, Seattle, WA 98109, USA.

Weber James L

Center for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, Marshfield, WI 54449, USA.

Stallings Raymond L

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

DOE Joint Genome Institute and Bioscience Division, Los Alamos National Laboratory, Los Alamos, NM 87545, USA.

Article Info

Journal

Genomics

Abbr.

Genomics

ISSN

0888-7543

DOI

10.1016/j.ygeno.2006.07.012

doggett@lanl.gov

Published

2006-12-00

Epub

2006-00-30

Pages

762-771

Language

English

Region

United States

NLM ID

8800135

Subset

External Links

PubMed source DOI: 10.1016/j.ygeno.2006.07.012 View journal details

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A 360-kb interchromosomal duplication of the human HYDIN locus.

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