Disease relevance of Psmc3ip

• Disruption of meiosis-specific HOP2 or MND1 genes leads to severe defects in homologous synapsis and an early-stage recombination failure resulting in sterility [1].

High impact information on Psmc3ip

• We also show that coiled-coil motifs in Hop2 and Mnd1 are essential for their interaction with each other and that a clearly delineated region near the COOH terminus of both proteins is necessary for both the DNA binding and single-strand annealing by the Hop-Mnd1 heterodimer [2].
• Finally, we describe a point mutation in Hop2 that dissociates its strand invasion activity from its ability to bind and anneal DNA [2].
• The TBPIP/HOP2 protein is a factor that ensures the proper pairing of homologous chromosomes during meiosis [3].
• Our radiation hybrid mapping indicates that TBPIP is located on chromosome 17q12-21 [4].
• Eighty-eight per cent of the deduced amino acid sequence of human TBPIP coincides with that of mouse TBPIP [4].

Biological context of Psmc3ip

• We have generated a Hop2 knockout mouse that shows profound meiotic defects with a distinct and novel phenotype [5].

Anatomical context of Psmc3ip

• Hop2(-/-) spermatocytes arrest at the stage of pachytene-like chromosome condensation [5].

Other interactions of Psmc3ip

• Here we show that mouse Hop2 can efficiently form D-loops, the first recombination intermediates, but this activity is abrogated upon association with Mnd1 [1].

Analytical, diagnostic and therapeutic context of Psmc3ip

• Molecular cloning and characterization of a novel TBP-1 interacting protein (TBPIP):enhancement of TBP-1 action on Tat by TBPIP [6].
• Immunofluorescence analysis of meiotic chromosome spreads indicates that while meiotic double-stranded breaks are formed and processed in the Hop2 knockout, they fail to be repaired [5].

References