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Title: Chromosomal protein HMG-14 is overexpressed in Down syndrome

Abstract

The physical phenotype of Down syndrome, one of the most prevalent genetic disorders, results from an extra copy of regions q22.1 to q22.3 of chromosome 21 in cells of affected individuals. The gene coding for chromosomal protein HMG-14 is among the limited number of genes, coding for known functions, which has been mapped to this region of chromosome 21. Here the authors report a gene dosage effect on the expression of HMG-14 in both cultured cells and brain tissue samples obtained from Down syndrome patients. The putative role of HMG-14 in the structure of active chromatin raises the possibility that elevated levels of this protein may be a contributing factor in the etiology of Down syndrome.

Authors:
;  [1];  [2]
  1. National Inst. of Health, Bethesda, MD (United States)
  2. Georgetown Univ., Rockville, MD (United States)
Publication Date:
OSTI Identifier:
5378311
Resource Type:
Journal Article
Journal Name:
Experimental Cell Research; (United States)
Additional Journal Information:
Journal Volume: 193:1; Journal ID: ISSN 0014-4827
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; DOWNS SYNDROME; ETIOLOGY; HUMAN CHROMOSOME 21; GENETIC MAPPING; BRAIN; CELL CULTURES; CHROMATIN; NUCLEOPROTEINS; PHENOTYPE; BODY; CENTRAL NERVOUS SYSTEM; CHROMOSOMES; CONGENITAL DISEASES; CONGENITAL MALFORMATIONS; DISEASES; HEREDITARY DISEASES; HUMAN CHROMOSOMES; MALFORMATIONS; MAPPING; NERVOUS SYSTEM; ORGANIC COMPOUNDS; ORGANS; PATHOLOGICAL CHANGES; PROTEINS; 550400* - Genetics

Citation Formats

Pash, J, Bustin, M, and Smithgall, T. Chromosomal protein HMG-14 is overexpressed in Down syndrome. United States: N. p., 1991. Web. doi:10.1016/0014-4827(91)90562-9.
Pash, J, Bustin, M, & Smithgall, T. Chromosomal protein HMG-14 is overexpressed in Down syndrome. United States. https://doi.org/10.1016/0014-4827(91)90562-9
Pash, J, Bustin, M, and Smithgall, T. 1991. "Chromosomal protein HMG-14 is overexpressed in Down syndrome". United States. https://doi.org/10.1016/0014-4827(91)90562-9.
@article{osti_5378311,
title = {Chromosomal protein HMG-14 is overexpressed in Down syndrome},
author = {Pash, J and Bustin, M and Smithgall, T},
abstractNote = {The physical phenotype of Down syndrome, one of the most prevalent genetic disorders, results from an extra copy of regions q22.1 to q22.3 of chromosome 21 in cells of affected individuals. The gene coding for chromosomal protein HMG-14 is among the limited number of genes, coding for known functions, which has been mapped to this region of chromosome 21. Here the authors report a gene dosage effect on the expression of HMG-14 in both cultured cells and brain tissue samples obtained from Down syndrome patients. The putative role of HMG-14 in the structure of active chromatin raises the possibility that elevated levels of this protein may be a contributing factor in the etiology of Down syndrome.},
doi = {10.1016/0014-4827(91)90562-9},
url = {https://www.osti.gov/biblio/5378311}, journal = {Experimental Cell Research; (United States)},
issn = {0014-4827},
number = ,
volume = 193:1,
place = {United States},
year = {Fri Mar 01 00:00:00 EST 1991},
month = {Fri Mar 01 00:00:00 EST 1991}
}