Chromosomal protein HMG-14 gene maps to the Down syndrome region of human chromosome 21 and is overexpressed in mouse trisomy 16

Journal Article · Tue May 01 00:00:00 EDT 1990 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.87.10.3836· OSTI ID:5267258

Pash, J; Popescu, N; Matocha, M; Rapoport, S; Bustin, M ^[1]

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1. National Institutes of Health, Bethesda, MD (USA)

The gene for human high-mobility-group (HMG) chromosomal protein HMG-14 is located in region 21q22.3, a region associated with the pathogenesis of Down syndrome, one of the most prevalent human birth defects. The expression of this gene is analyzed in mouse embryos that are trisomic in chromosome 16 and are considered to be an animal model for Down syndrome. RNA blot-hybridization analysis and detailed analysis of HMG-14 protein levels indicate that mouse trisomy 16 embryos have approximately 1.5 times more HMG-14 mRNA and protein than their normal littermates, suggesting a direct gene dosage effect. The HMG-14 gene may be an additional marker for the Down syndrome. Chromosomal protein HMG-14 is a nucleosomal binding protein that may confer distinct properties to the chromatin structure of transcriptionally active genes and therefore may be a contributing factor in the etiology of the syndrome.

• OSTI ID: 5267258
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:10; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
62 RADIOLOGY AND NUCLEAR MEDICINE
DOWNS SYNDROME
ETIOLOGY
HUMAN CHROMOSOME 21
GENETIC MAPPING
BIOLOGICAL MARKERS
BIOLOGICAL MODELS
CHROMATIN
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
EMBRYOS
GENE REGULATION
PHOSPHORUS 32
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMES
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
DAYS LIVING RADIOISOTOPES
DISEASES
HEREDITARY DISEASES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MALFORMATIONS
MAPPING
MUTATIONS
NUCLEI
ODD-ODD NUCLEI
PATHOLOGICAL CHANGES
PHOSPHORUS ISOTOPES
RADIOISOTOPES
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