Structural Implications of Missense Point Mutations in Shwachman–Bodian–Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation

Mattiotti G, Nanna V, Giulini M, Alberga D, Mangiatordi G, Sánchez-Puig N, Saviano M, Tubiana L, Potestio R, Lattanzi G, Siliqi D
ACS Omega (2025 Aug 01)

doi: 10.1021/acsomega.5c04764

Submitted to SASBDB: 2024 Jul 11 Published in SASBDB: 2025 Aug 4

SASDVC4 – Shwachman-Bodian-Diamond syndrome protein (SBDS) - wild type Sample: Ribosome maturation protein SBDS monomer, 29 kDa Homo sapiens protein Buffer: 50 mM Tris pH 8.0, 10% glycerol, 300 mM NaCl, 5 mM MgCl2., pH: Experiment: SAXS data collected at EMBL P12, PETRA III on 2022 Apr 6 RgGuinier 3.0 nm Dmax 11.4 nm VolumePorod 50 nm3

SASDVD4 – Shwachman-Bodian-Diamond syndrome protein (SBDS) - R19Q mutant Sample: Ribosome maturation protein SBDS (R19Q) monomer, 29 kDa Homo sapiens protein Buffer: 50 mM Tris pH 8.0, 10% glycerol, 300 mM NaCl, 5 mM MgCl2., pH: Experiment: SAXS data collected at EMBL P12, PETRA III on 2022 Apr 6 RgGuinier 2.9 nm Dmax 12.2 nm VolumePorod 46 nm3

SASDVE4 – Shwachman-Bodian-Diamond syndrome protein (SBDS) - I167T mutant Sample: Ribosome maturation protein SBDS (I167T) monomer, 29 kDa Homo sapiens protein Buffer: 50 mM Tris pH 8.0, 10% glycerol, 300 mM NaCl, 5 mM MgCl2., pH: Experiment: SAXS data collected at EMBL P12, PETRA III on 2022 Apr 6 RgGuinier 2.9 nm Dmax 10.5 nm VolumePorod 44 nm3

SASDVF4 – Shwachman-Bodian-Diamond syndrome protein (SBDS) - R175W mutant Sample: Ribosome maturation protein SBDS (R175W) monomer, 29 kDa Homo sapiens protein Buffer: 50 mM Tris pH 8.0, 10% glycerol, 300 mM NaCl, 5 mM MgCl2., pH: Experiment: SAXS data collected at EMBL P12, PETRA III on 2022 Apr 6 RgGuinier 3.1 nm Dmax 11.6 nm VolumePorod 48 nm3