[Dyskeratosis congenita: short telomeres are not the rule].
Telomeres are nucleoprotein structures at the end of linear chromosomes. Their length, structure, and integrity are regulated by the telomerase complex, the shelterins and components of the DNA damage response. In human subjects, defects in telomere maintenance are responsible for Dyskeratosis Congenita (DC), a rare genetic disorder characterized by aplastic anaemia, premature aging and predisposition to cancer. Recent data from the study of patients with Hoyeraal-Hreidarsson syndrome, a severe variant of DC, demonstrate the great molecular heterogeneity of this disease. While most cases of DC are associated with defects in factors involved in telomere length regulation, some severe forms of the disease seem to be rather associated with defects in telomere replication and protection.
Equipe dynamique du génome et système immunitaire, Paris, France. fabien.touzot@inserm.fr
Fabien
F
Touzot
Tangui
T
Le Guen
Jean-Pierre
JP
de Villartay
Patrick
P
Revy
D004261:DNA Replication / Q000235:genetics / Q000502:physiology; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D008954:Models, Biological; D012261:Ribonucleoproteins / Q000378:metabolism / Q000502:physiology; D019098:Telomerase / Q000235:genetics / Q000378:metabolism; D016615:Telomere / Q000235:genetics / Q000378:metabolism / Q000502:physiology*
D012261:Ribonucleoproteins; D019098:Telomerase