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Table 3 Potential functionally relevant genes residing in regions showing imbalances in patients with CdLS-like phenotypes

From: Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Pt

Gene

Name

Function

Biological process

Ref

Position*

Gene alteration

1

CEP250

Centrosomal protein 250kDa

Core centrosomal protein required for centriole-centriole cohesion during the interphase of the cell cycle.

Cell cycle progression (centriole-centriole cohesion) ; transcritpion regulation

50

chr20:33506637-33563217

Loss

 

DSN1

MIND kinetochore complex component, homologue (S. cerevisiae)

Kinetochore protein that functions as part of the minichromosome instability-12 centromere complex, required for proper kinetochore assembly and progression through the cell cycle.

Cell cycle progression (kinetochore assembly)

51,52

chr20:34813608-34835644

Loss

2

MAD2L2

MAD2 mitotic arrest deficient-like 2 (yeast)

Component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate.

Cell cycle progression; DNA repair

53

chr1:11657124-11674265

Loss

 

APITD1/CENPnS

Apoptosis-inducing, TAF9-like domain 1

Component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known role in the stable assembly of the outer kinetochore.

Mitotic cell cycle progression; DNA repair; DNA-dependent transcription initiation

54

chr1:10412746-10425459

Loss

3

RECQL5

RecQ protein-like 5

Member of DNA-helicase with a specific role being coupled to RNAPII transcription and DNA recombination.

DNA helicase activity (DNA repair, transcription regulation)

55,56, 57

chr17:71134545-71174860

Gain

 

ANAPC11

Anaphase-promoting complex subunit 11

Component of the anaphase.promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle.

Mitotic cellcycle progression

58,59,60

chr17:77442895-77451655

Gain

4

MED16

Mediator complex subunit 16

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes

Transcription regulation

61

chr19:867,962-893,218

Gain

 

MBD3

Methyl-CpG binding domain protein 3

Subunit of the NuRD, a multisubunit complex containing nucleosome remodelling and histone deacetylase activities. It acts as a transcriptional repressor and plays a role in gene silencing

Histone acetylation (transcription regulation, cell cycle progression)

62, 63

chr19:1527678-1543652

Interrupted

  1. *UCSC Genome Browser assembly Mar.2006 (NCBI36/hg18).