scholarly journals Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance

2003 ◽  
Vol 31 (11) ◽  
pp. 2769-2777 ◽  
Author(s):  
M. F. Sanchez-Font
Keyword(s):  
Down Syndrome ◽  
Gene Dosage ◽  
Dosage Imbalance

Down syndrome gene dosage imbalance on cerebellum development

2007 ◽  
Vol 82 (2) ◽  
pp. 87-94 ◽  
Author(s):  
Randal X. Moldrich ◽  
Luce Dauphinot ◽  
Julien Laffaire ◽  
Jean Rossier ◽  
Marie-Claude Potier
Keyword(s):  
Down Syndrome ◽  
Gene Dosage ◽  
Cerebellum Development ◽  
Dosage Imbalance

Down Syndrome

2017 ◽  
Author(s):  
George T Capone
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Developmental Delays ◽  
Gene Dosage ◽  
Adult Life ◽  
Chromosome 21 ◽  
Extra Copy ◽  
Anatomical Features ◽  
Primary Mechanism ◽  
Dosage Imbalance

People with Down syndrome (trisomy 21) are distinguished by having an extra copy of chromosome 21. Chromosome 21 contains an estimated 562 genes, including 161 known to code for functional proteins, and at least 396 considered novel. Gene dosage imbalance is the primary mechanism, which results in the molecular, cellular, histological, and anatomical features characteristic of the condition. Throughout brain development, major neurobiological events go awry, resulting in a differently organized brain and characteristic developmental delays noted during infancy and the preschool years. The consequences of gene dosage imbalance continue to have repercussions on neurobiological function throughout childhood and adult life.

scholarly journals Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome

Bone ◽  
2020 ◽  
Vol 136 ◽  
pp. 115367
Author(s):  
Jared R. Thomas ◽  
Jonathan LaCombe ◽  
Rachel Long ◽  
Eva Lana-Elola ◽  
Sheona Watson-Scales ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Sexual Dimorphism ◽  
Gene Dosage ◽  
Dosage Imbalance

scholarly journals Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

2007 ◽  
Vol 81 (2) ◽  
pp. 252-263 ◽  
Author(s):  
Paola Prandini ◽  
Samuel Deutsch ◽  
Robert Lyle ◽  
Maryline Gagnebin ◽  
Celine Delucinge Vivier ◽  
...  
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
Gene Dosage ◽  
Gene Expression Variation ◽  
Expression Variation ◽  
Dosage Imbalance

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

scholarly journals Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

2003 ◽  
Vol 23 (10) ◽  
pp. 3646-3655 ◽  
Author(s):  
Katherina Walz ◽  
Sandra Caratini-Rivera ◽  
Weimin Bi ◽  
Patricia Fonseca ◽  
Dena L. Mansouri ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Molecular Genetic ◽  
Chromosome 17 ◽  
Craniofacial Abnormalities ◽  
Chromosome 11 ◽  
Chromosome Engineering ◽  
Mild Phenotype ◽  
Contiguous Gene ◽  
Genomic Interval ◽  
Dosage Imbalance

ABSTRACT Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked dosage-sensitive genes. Smith-Magenis syndrome (SMS) is a CGS associated with a deletion within band p11.2 of chromosome 17. Recently, patients harboring the predicted reciprocal duplication product [dup(17)(p11.2p11.2)] have been described as having a relatively mild phenotype. By chromosomal engineering, we created rearranged chromosomes carrying the deletion [Df(11)17] or duplication [Dp(11)17] of the syntenic region on mouse chromosome 11 that spans the genomic interval commonly deleted in SMS patients. Df(11)17/+ mice exhibit craniofacial abnormalities, seizures, marked obesity, and male-specific reduced fertility. Dp(11)17/+ animals are underweight and do not have seizures, craniofacial abnormalities, or reduced fertility. Examination of Df(11)17/Dp(11)17 animals suggests that most of the observed phenotypes result from gene dosage effects. Our murine models represent a powerful tool to analyze the consequences of gene dosage imbalance in this genomic interval and to investigate the molecular genetic bases of both SMS and dup(17)(p11.2p11.2).

Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects

2008 ◽  
Vol 24 (8) ◽  
pp. 390-397 ◽  
Author(s):  
Reiner A. Veitia ◽  
Samuel Bottani ◽  
James A. Birchler
Keyword(s):  
Gene Dosage ◽  
Dosage Imbalance
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