Defects in t⁶A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G
Nat Commun 10(1):3967 (2019 Sep 3)

PMID: 31481669 doi: 10.1038/s41467-019-11951-x

Submitted to SASBDB: 2019 Jul 5 Published in SASBDB: 2019 Sep 5

SASDFK8 – GON7, the fifth subunit of human KEOPS Sample: EKC/KEOPS complex subunit GON7 monomer, 13 kDa Homo sapiens protein Buffer: 20 mM MES, 200 mM NaCl, 5 mM β-mercaptoethanol, pH: 6.5 Experiment: SAXS data collected at SWING, SOLEIL on 2017 Mar 26 RgGuinier 3.1 nm Dmax 12.5 nm VolumePorod 46 nm3

SASDFL8 – GON7, the fifth subunit of human KEOPS, bound to LAGE3-OSGEP (EKC/KEOPS complex subunit:Probable tRNA N6-adenosine threonylcarbamoyltransferase) Sample: EKC/KEOPS complex subunit GON7 monomer, 12 kDa Homo sapiens protein EKC/KEOPS complex subunit LAGE3 monomer, 15 kDa Homo sapiens protein Probable tRNA N6-adenosine threonylcarbamoyltransferase monomer, 36 kDa Homo sapiens protein Buffer: 20 mM MES, 200 mM NaCl, 5 mM β-mercaptoethanol, pH: 6.5 Experiment: SAXS data collected at SWING, SOLEIL on 2017 May 12 RgGuinier 3.1 nm Dmax 11.5 nm VolumePorod 91 nm3

SASDFM8 – GON7, the fifth subunit of human KEOPS, bound to the EKC/KEOPS complex subunit, LAGE3 Sample: EKC/KEOPS complex subunit GON7 dimer, 25 kDa Homo sapiens protein EKC/KEOPS complex subunit LAGE3 dimer, 33 kDa Homo sapiens protein Buffer: 20 mM MES, 200 mM NaCl, 5 mM β-mercaptoethanol, pH: 6.5 Experiment: SAXS data collected at SWING, SOLEIL on 2017 Mar 19 RgGuinier 3.6 nm Dmax 15.5 nm VolumePorod 126 nm3