Chromosomal protein HMG-14 is overexpressed in Down syndrome
Journal Article
·
· Experimental Cell Research; (United States)
- National Inst. of Health, Bethesda, MD (United States)
- Georgetown Univ., Rockville, MD (United States)
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.
- OSTI ID:
- 5378311
- Journal Information:
- Experimental Cell Research; (United States), Vol. 193:1; ISSN 0014-4827
- Country of Publication:
- United States
- Language:
- English
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Tue May 01 00:00:00 EDT 1990
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:5378311
+2 more
Increased disomic homozygosity in the telomeric region of chromosome 21 among Down Syndrome individuals with duodenal atresia
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Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
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YAC contig and cell hybrid mapping of six expressed sequences encoded by human chromosome 21
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Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:5378311
Related Subjects
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
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