Cohesin embraces new phenotypes

Abstract

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

Figure 1

Cohesin structural and regulatory components and functions. Shown are the canonical function of cohesin in sister chromatid cohesion (top) and its non-canonical roles in genome regulation and DNA looping, regulation of gene expression and DNA repair (bottom). Key cohesin structural components and regulators are depicted. Red stars indicate proteins whose mutated forms are implicated in known cohesinopathies (NIPBL, SMC1A, SMC3, RAD21 and HDAC8 associated with CdLS, ATRX associated with X-linked α-thalassemia mental retardation syndrome, DDX11 associated with WBS, ESCO2 associated with RBS, SGOL1 associated with CAID syndrome), and blue stars indicate proteins implicated in other developmental disorders not classified as cohesinopathies (RECQL4 associated with Rothmund-Thomson, Baller-Gerold and RAPADILINO syndromes, MED12 associated with Opitz-Kaveggia, Ohdo and Lujan-Fryns syndromes, CTCF associated with autosomal dominant mental retardation 21).