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RESEARCH PAPER
1 Department of Toxicogenetics, Leiden University Medical Centre, 2333 AL Leiden, The Netherlands; 2 Molecular Genetics Group, Wageningen University, 6703 BD Wageningen, The Netherlands; 3 Department of Reproduction and Development, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands; 4 Center for Genomics and Bioinformatics, Karolinska Institutet, S-171 77 Stockholm, Sweden
In meiotic prophase, synaptonemal complexes (SCs) closely appose homologous chromosomes (homologs) along their length. SCs are assembled from two axial elements (AEs), one along each homolog, which are connected by numerous transverse filaments (TFs). We disrupted the mouse gene encoding TF protein Sycp1 to analyze the role of TFs in meiotic chromosome behavior and recombination. Sycp1-/- mice are infertile, but otherwise healthy. Sycp1-/- spermatocytes form normal AEs, which align homologously, but do not synapse. Most Sycp1-/- spermatocytes arrest in pachynema, whereas a small proportion reaches diplonema, or, exceptionally, metaphase I. In leptotene Sycp1-/- spermatocytes, 
H2AX (indicative of DNA damage, including double-strand breaks) appears normal. In pachynema, Sycp1-/- spermatocytes display a number of discrete H2AX domains along each chromosome, whereas H2AX disappears from autosomes in wild-type spermatocytes. RAD51/DMC1, RPA, and MSH4 foci (which mark early and intermediate steps in pairing/recombination) appear in similar numbers as in wild type, but do not all disappear, and MLH1 and MLH3 foci (which mark late steps in crossing over) are not formed. Crossovers were rare in metaphase I of Sycp1-/- mice. We propose that SYCP1 has a coordinating role, and ensures formation of crossovers. Unexpectedly, Sycp1-/- spermatocytes did not form XY bodies.
[Keywords: XY body; chromosome pairing; meiosis; mouse; recombination; synaptonemal complex]
Received November 1, 2004; revised version accepted April 18, 2005.
Article and publication are at http://www.genesdev.org/cgi/doi/10.1101/gad.329705.
5 These authors contributed equally to this work.
6 E-MAIL Christa.Heyting{at}wur.nl; FAX 91-(0)317-483140.
7 E-MAIL A.Pastink{at}lumc.nl; FAX 31-(0)71-5276173.
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