Vega, H. et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genet. 37, 468-470

Johns Hopkins University, Baltimore, Maryland, United States
Nature Genetics (Impact Factor: 29.35). 06/2005; 37(5):468-70. DOI: 10.1038/ng1548
Source: PubMed

ABSTRACT Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.

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    • "(/BRCA2) p.Ala938Profs*21 p.Lys3326* EUFA178-L M FANCB a Deletion promoter exon 1 – [34] No protein EUFA1386-L M FANCB a c.829dup – [34] p.Cys277Leufs*31 EUFA158-L F FANCC c.67del (also known as 322delG) c.67del (also known as 322delG) [35] p.Asp23Ilefs*23 p.Asp23Ilefs*23 EUFA1289-L M FANCD2 c.206-2A > T c.1414- 71 1545 + 256del459 [36] p.Ala69Aspfs*7 p.Glu472 Lys515del EUFA816-L M FANCI c.3853C > T c.3350-88A > G [37] p.Arg1285* p.Glu1117fs EUFA868-L F FANCL c.837-15 837-9delins177 c.837-15 837-9delins177 [38] p.? p.? EUFA867-L F FANCM c.2171C > A c.4222 + 1978 4300del [39] p.Ser724* p.? FANCA c.2557C > T c.709 + 5G > A [29] p.Arg853* p.? HSC62 M FANCD1 c.8488-1G > A c.8488-1G > A [20] (/BRCA2) p.Trp2830 Lys2833del p.Trp2830 Lys2833del EUFA208-L F FANCD1 c.7878G > C c.756 757del Current study (/BRCA2) p.Trp2626Cys p.Asp252Glufs*2 EUFA423-L F FANCD1 c.7463 7464insAT c.9672dup [20] (/BRCA2) p.Asp2489* p.Tyr3225Ilefs*30 EUFA579-L F FANCD1 c.7007G > A 5609 5610delinsAG [20] (/BRCA2) p.? p.Phe1870* EUFA932-L M FANCD1 c.2957dup c.7684T > C Current study (/BRCA2) p.Asn986Lysfs*2 p.Phe2562Leu EUFA943-L M FANCD1 c.480 489del c.480 489del Current study (/BRCA2) p.Gly162Phefs*7 p.Gly162Phefs*7 EUFA1389-L F FANCD1 c.1597del Deletion exon 15–16 Current study (BRCA2) p.Thr533Leufs*25 p.? EUFA696-L F FANCJ c.2392C > T c.2492 + 2dup [40] (/BRIP1) p.Arg798* p.? EUFA1341-L F FANCN c.1653T > A Deletion exon 1–10 [21] (/PALB2) p.Tyr551* p.? EUFA1354-L M FANCP c.286del c.286del [24] (/SLX4) p.Thr96Leufs*30 p.Thr96Leufs*30 FA104 F FANCQ c.1484 1488del c.2065C > A [27] (/XPF) p.Thr495Asnfs*6 p.Arg689Ser VU1177-L F ESCO2 c.1111dup c.1111dup [41] p.Thr371Asnfs*32 p.Thr371Asnfs*32 VU1199-L M ESCO2 c.879 880del c.879 880del [41] p.Arg293Serfs*7 p.Arg293Serfs*7 VU1202-L M DDX11 c.2689 2691del c.2271 + 2T > C [30] p. Lys897del p.? CdLS11165 M NIPBL b c.3813 3815del – [42] p.Lys1271del CdLS11167 F NIPBL b c.3940dup – [42] p.Thr1314Asnfs*9 EUFA1341F SV40 F FANCN c.1653T > A Deletion exon 1–10 [21] (/PALB2) p.Tyr551* p.? VU1199F SV40 M ESCO2 c.879 880del c.879 880del [41] p.Arg293Serfs*7 p.Arg293Serfs*7 VU-SCC-1131 F FANCC c.67del (also known as 322delG) c.67del (also known as 322delG) [43] p.Asp23Ilefs*23 p.Asp23Ilefs*23 VU-SCC-1365 M FANCA c.3788-3790del c.3788-3790del [43] p. Phe1263del p.Phe1263del VU-SCC-1604 F FANCL c.483 487del c.906C > G Current study p.Glu161Aspfs*31 p.Ile302Met a X-linked inheritance. b Autosomal dominant "
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    • "In addition to Aurora kinases, several members of the HAT family are also significantly upregulated in arthritic mice and patients with RA, with the gene encoding Esco2 showing the strongest increase in expression. Esco2 is thought to be required for the establishment of sister chromatid cohesion and it also couples cohesion and DNA replication to ensure that only sister chromatids are paired together [23,24]. Because Esco2 belongs to the HAT family of epigenetic modifiers, it is reasonable to assume that it acts as a selective activator of certain target genes. "
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    • "Roberts syndrome (RBS, MIM 268300) is characterized by pre-and post-natal growth retardation, bilateral symmetric limb reduction, and craniofacial abnormalities including hypertelorism, cleft lip and palate, and hypoplastic nasal alae [76]. RBS is inherited in an autosomal recessive manner and is caused by mutations in the ESCO2 gene [77], which have been recently shown to influence production of rRNA [78]. ESCO2, Establishment of Cohesion 1 Homolog 2 (Eco1 in yeast), is an acetyl transferase important in assembly of Cohesin. "
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