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Instruments / Technical Area	Publication Details	Published	Actions
B21-High Throughput SAXS	Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility Fernando Sánchez-Sáez , Laura Gómez-H , Orla M. Dunne , Cristina Gallego-Páramo , Natalia Felipe-Medina , Manuel Sánchez-Martín , Elena Llano , Alberto M. Pendas , Owen R. Davies Science Advances 6 DOI: 10.1126/sciadv.abb1660 Diamond Proposal Number(s): [15836, 21777, 23510] Open Access Show Abstract ▼ Abstract: Meiotic reductional division depends on the synaptonemal complex (SC), a supramolecular protein assembly that mediates homologous chromosomes synapsis and promotes crossover formation. The mammalian SC has eight structural components, including SYCE1, the only central element protein with known causative mutations in human infertility. We combine mouse genetics, cellular, and biochemical studies to reveal that SYCE1 undergoes multivalent interactions with SC component SIX6OS1. The N terminus of SIX6OS1 binds and disrupts SYCE1’s core dimeric structure to form a 1:1 complex, while their downstream sequences provide a distinct second interface. These interfaces are separately disrupted by SYCE1 mutations associated with nonobstructive azoospermia and premature ovarian failure (POF), respectively. Mice harboring SYCE1’s POF mutation and a targeted deletion within SIX6OS1’s N terminus are infertile with failure of chromosome synapsis. We conclude that both SYCE1-SIX6OS1 binding interfaces are essential for SC assembly, thus explaining how SYCE1’s reported clinical mutations give rise to human infertility.	Sep 2020

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B21-High Throughput SAXS

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility

Fernando Sánchez-Sáez , Laura Gómez-H , Orla M. Dunne , Cristina Gallego-Páramo , Natalia Felipe-Medina , Manuel Sánchez-Martín , Elena Llano , Alberto M. Pendas , Owen R. Davies

Science Advances 6

DOI: 10.1126/sciadv.abb1660

Diamond Proposal Number(s): [15836, 21777, 23510]