Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is a malformation syndrome associated with growth retardation , mental retardation , and immunodeficiency resulting from a hemizygous deletion of the short arm of chromosome 4 , called the WHS critical region (WHSC ). The WHSC 1 gene is located in this region , and its loss is believed to be responsible for a number of WHS characteristics . We identified WHSC 1 in a genetic screen for genes involved in responding to replication stress , linking Wolf-Hirschhorn syndrome to the DNA damage response (DDR ). Here , we report that the WHSC 1 protein is a member of the DDR pathway . WHSC 1 localizes to sites of DNA damage and replication stress and is required for resistance to many DNA-damaging and replication stress-inducing agents . Through its SET domain , WHSC 1 regulates the methylation status of the histone H 4 K 20 residue and is required for the recruitment of 53 BP 1 to sites of DNA damage . We propose that Wolf-Hirschhorn syndrome results from a defect in the DDR .

Diseases
Validation

Diseases presenting "immunodeficiency" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

cushing syndrome

dracunculiasis

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kabuki syndrome

legionellosis

malignant atrophic papulosis

oculocutaneous albinism

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

primary hyperoxaluria type 1

pyomyositis

severe combined immunodeficiency

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated