Chromosomal protein HMG-14 is overexpressed in Down syndrome

Journal Article · Fri Mar 01 04:00:00 EST 1991 · Experimental Cell Research; (United States)

DOI:https://doi.org/10.1016/0014-4827(91)90562-9· OSTI ID:5378311

Pash, J; Bustin, M ^[1]; Smithgall, T ^[2]

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1. National Inst. of Health, Bethesda, MD (United States)
2. 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), Journal Name: Experimental Cell Research; (United States) Vol. 193:1; ISSN ECREA; ISSN 0014-4827
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BRAIN
CELL CULTURES
CENTRAL NERVOUS SYSTEM
CHROMATIN
CHROMOSOMES
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
DISEASES
DOWNS SYNDROME
ETIOLOGY
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
HUMAN CHROMOSOMES
MALFORMATIONS
MAPPING
NERVOUS SYSTEM
NUCLEOPROTEINS
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
PHENOTYPE
PROTEINS