PgmNr M5019: Systematization of the regulation of mammalian chromosome biology with evolutionary genetics & OMICs: A synopsis - 2016.

Authors:
F. S. Nallaseth 1,2,3,4,5,6,7,8,9 ; R. Felder - Gibbions 10 ; Z. S. Guo 5,11 ; J. Ceci 4,12 ; I. S. Han 13 ; R. DeLisio 6 ; M. J. Dewey 4 ; D. Woodbury 10 ; L. A. Schein 10 ; M. L. Tracey 8 ; J. B. Whitney III 3


Institutes
1) LISNJ, Belle Mead, NJ 08502; 2) CBSA, Boston, MA; 3) MCG, Augusta, GA 30912; 4) USC, Columbia, SC 29208; 5) Huffington CA, MCB, Baylor CM, Houston, TX 77030; 6) RIMB, Nutley, NJ 07110; 7) FHCRC, Seattle, WA 98109; 8) FIU, Miami, FL 33199; 9) FAU, Boca Raton, FL 33431; 10) RWJUH, Piscataway, NJ 08854; 11) U Pittsburgh Cancer Inst, Pittsburgh, PA 15213; 12) HJKRI, U Buffalo, NY 11427; 13) U Ulsan, Seoul, Korea.


Abstract:

Application of principles regulating evolutionary genetics, testis determination (TD) & chromosome biology confirm induction of Y rearrangements & epigenetic modifications in interspecific (IS) combinations of mouse genomes & Y chromosomes. Chimeric adult males with >90% XX somatic & testicular cells confirm Sry dispensability. This & 3 methods confirmed genetically modulated rearrangements in the direct & inverted repeat (DR/IR) dense ~200 kb TD Sxr-region spanning the 34 kb IR Sry locus/gene of fertile males, at high frequency in all tissues, germlines & species. This is consistent with the spectrum of high frequency serendipitous subversions of chromosome biology (SHFSSCB) reported in IS mice from natural hybrid zones (NHZ) & lab matings. Induction by unbiased, evolutionary divergence, rather than by drug or heteroduplex selection, retains the pathological relevance of errors in endogenous sequences, native loci & developmental contexts - with systematization & control of inducing networks by mouse genetics. Also isolated is a putative retrotransposon encoded fusion ORF: SRY-HMG (splice site?)-LINE-1 transposase. Sry & yeast (S.c.) IR are similar as known sites of double strand breaks (DSB) processed into double Holliday Junctions (dHJ) & their rearrangement products. In S.c. (& mouse?) the choice between dissolution (& repair) or resolution (& deletions) of dHJ is a consequence of the interactions of the Sgs1 helicase/Top3 topoisomerase/Rmi1 heteromer with Rad51. EMSA & ‘Pull Down’ assays confirm that Rmi1 & Top3/Rmi1 preferentially (>10x) bind HJ over 10 synthetic recombinational or replicational structures. The dimer but neither monomer, stimulates Sgs-1N/HJ complex formation. Complexes with HJ have ~6x> affinity than with pseudoreplication forks (pRF) & so this choice between the 2 activities of Sgs1 at stalled forks may be imposed by DNA structure & the dimer. Structural similarity with unstable replication slow zones (RSZ)/fragile sites (FS) & cis suppressors of viral Oris may also predict Sxr instability. These results are a basis for an unbiased & integrative approach to systematizing, surveilling & controlling mammalian genome biology, preempting (disease) mutations & shifting therapeutic paradigms!