HumanMinibrainHomologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome
Abstract
The human homologue (MNBH/DYRK1) of the Drosophila minibrain gene maps to human chromosome 21 within the Down syndrome (DS) critical region and is within the region minimally deleted in chromosome 21-linked microcephaly. As a first step in gaining insight into the role that MNBH may have in human neurogenesis, and as a lead-up to the development of mouse models for MNBH overexpression, we have characterized the gene at the molecular level. We describe here the MNBH full-length transcript, alternative splicing, expression profile, and genomic organization. The full-length cDNA of MNBH is 5. 2 kb and is composed of 17 exons spanning 150 kb, between markers D21S335 and D21S337. Transcripts MNBHa and MNBHb arise from the use of different first exons in the 5'-UTR and are differentially expressed. MNBHa is expressed ubiquitiously in a broad spectrum of tissues and is apparently under the control of a CpG island. MNBHb is expressed only in heart and skeletal muscle and is apparently under the control of a TATA-like box. Four alternative splicing events affecting the C-terminus of the protein yield at least four isoforms of MNBH (MNBH-iso1, MNBH-iso2, MNBH-iso3, and MNBH-iso4). A PEST sequence, potentially involved in the rapid degradation of the protein, is present in all the isoforms. A histidine repeat and a serine/threonine domain are present only in the largest form of the protein (MNBH-iso1). MNBH was overexpressed 1.5-fold in DS brains and Dyrk1 about 2.1-fold in the brains o…
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Brains of 20-week-old fetuses with DS showed 1.5-fold upregulation of DYRK1A RNA.
“Brains of 20-week-old fetuses with DS showed 1.5-fold upregulation of DYRK1A RNA and brains of adult Ts65Dn mice showed a 2.1-fold increase of Dyrk1a RNA expression (Guimera et al., 1999).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Guimera et al., 1999
Brains of adult Ts65Dn mice showed a 2.1-fold increase of Dyrk1a RNA expression.
“Brains of 20-week-old fetuses with DS showed 1.5-fold upregulation of DYRK1A RNA and brains of adult Ts65Dn mice showed a 2.1-fold increase of Dyrk1a RNA expression (Guimera et al., 1999).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Guimera et al., 1999
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References 35 · Cited by 186
- Authors
- Guimera, J., Casas, C., Estivill, X., & Pritchard, M.
- Affiliations
- Duran i Reynals Hospital (ES)
- Corresponding author
- Estivill, Xavier
- Pritchard, Melanie
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 1999-05
- Volume
- 57
- Issue
- 3
- Pages
- 407-418
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W2117065031
- Cited by
- 186
- References
- 35
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 3 · 2023: 7 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 4 · 2018: 6 · 2017: 3 · 2016: 7 · 2015: 6 · 2014: 5 · 2013: 9 · 2012: 13
- FWCI
- 4.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- European Commission
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Keywords
- Down syndrome, chromosome 21, alternative splicing, protein isoforms, tissue expression, CpG islands, PEST sequence, Ts65Dn mouse model, neurogenesis, microcephaly, gene overexpression, mouse models of Down syndrome
- MeSH terms
- Dyrk Kinases, Amino Acid Sequence, Animals, Base Sequence, Binding Sites, Down Syndrome, Humans, Molecular Sequence Data, Protein Kinases, Protein-Tyrosine Kinases, RNA, Messenger, Transcription, Genetic, Genetic Variation, Gene Expression, Protein Serine-Threonine Kinases, Alternative Splicing, Protein Structure, Secondary, DNA, Complementary, 3' Untranslated Regions, Mice
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