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A Novel Dominant Mesomelic Dysplasia Associated with A 1.0-Mb Microduplication of HOXD Gene Cluster at 2q31.1

ABSTRACT: A three-generation family with four patients affected by a mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. A phenotypically similar condition, mesomelic dysplasia Kantaputra type (MDKa; MIM 156232)[1], has also been mapped to this chromosomal region[2], raising the possibility that MDKa and the condition observed in this family may be allelic.

ORGANISM(S): Homo sapiens

PROVIDER: GSE20691 | GEO | 2010/03/09

SECONDARY ACCESSION(S): PRJNA125005

REPOSITORIES: GEO

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A Novel Dominant Mesomelic Dysplasia Associated with A 1.0-Mb Microduplication of HOXD Gene Cluster at 2q31.1

Project description:A three-generation family with four patients affected by a mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. A phenotypically similar condition, mesomelic dysplasia Kantaputra type (MDKa; MIM 156232)[1], has also been mapped to this chromosomal region[2], raising the possibility that MDKa and the condition observed in this family may be allelic. three-generation family including four affected individuals and two unaffected individuals

2010-05-06 | E-GEOD-20691 | biostudies-arrayexpress

Mesomelic Dysplasias Associated With The HOXD Locus Are Caused By Regulatory Reallocations [scRNA-seq]

Project description:Some human families display severe shortening and bending of the radius and ulna, a condition referred to as mesomelic dysplasia. Many of these families contain chromosomal rearrangements at 2q31, where the human HOXD locus maps. In mice, the dominant X-ray-induced Ulnaless inversion of the HoxD gene cluster produces a similar phenotype suggesting that the same pathological mechanism is at work in humans and mice. A tentative hypothesis was proposed where the various alterations to the genomic structure of HOXD could translocate Hoxd13 near to proximal limb enhancers, leading to its deleterious gain-of-expression in the embryonic forelimb. We evaluated this hypothesis by engineering a ca. 1Mb large inversion including the HoxD gene cluster, in order to position Hoxd13 within a chromatin domain rich in proximal limb enhancers. We show that these enhancers contact and activate Hoxd13 in proximal cells, concomitant to the formation of a mesomelic dysplasia phenotype. A secondary mutation in the coding frame of the HOXD13 protein in-cis with the inversion completely rescued the limb alterations, demonstrating that ectopic HOXD13 is indeed the unique cause of this bone anomaly. Single cell expression analysis and evaluation of HOXD13 binding sites in cells from this ectopic expression domain suggests that the phenotype arises primarily by acting through genes normally controlled by HOXD13 in distal limb cells. Altogether, these results provide a conceptual and mechanistic framework to understand and unify the molecular origins of human mesomelic dysplasia associated with 2q31.

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Mesomelic Dysplasias Associated With The HOXD Locus Are Caused By Regulatory Reallocations [ATAC-Seq]

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Mesomelic Dysplasias Associated With The HOXD Locus Are Caused By Regulatory Reallocations [cHi-C]

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Comparative genomic hybridization by array of samples from healthy individuals and patients with Verloes David Mesomelic Synostosis

Project description:Genomic comparison hybridization have been made between patients suffering of Verloes David Mesomelic Synostosis and 2 healthy references.

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Homo sapiens

Project description:A Novel Dominant Mesomelic Dysplasia Associated with A 1.0-Mb Microduplication of HOXD Gene Cluster at 2q31.1

| PRJNA125005 | ENA

Mesomelic Dysplasias Associated With The HOXD Locus Are Caused By Regulatory Reallocations

Project description:Mesomelic Dysplasias Associated With The HOXD Locus Are Caused By Regulatory Reallocations

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Midkine-a regulates the formation of a fibrotic scar during zebrafish heart regeneration

Project description:Midkine-a is a cytokine that is highly expressed in the heart upon injury that its role in regeneration has not been identified. We generated a KO zebrafish lines, mdkacn105, and studied the effect of mdka deletion in zebrafish adult heart regeneration. By combining histology and high-throughput genomics, we found that loss of mdka leads to arrest of heart regeneration. Mdka mutant hearts display increased collagen deposition in the site of the injury and decreased proliferation of the coronary endothelial cells due to increased expression of ECM including collagen and periostin as well as decreased expression of Hif1a. Our results demonstrate the importance of a balanced fibrotic respond is necessary for heart regeneration and indicates mdka importance in this process.

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