Spare PRELI gene loci: failsafe chromosome insurance?

PLoS One. 2012;7(5):e37949. doi: 10.1371/journal.pone.0037949. Epub 2012 May 30.

Abstract

Background: LEA (late embryogenesis abundant) proteins encode conserved N-terminal mitochondrial signal domains and C-terminal (A/TAEKAK) motif repeats, long-presumed to confer cell resistance to stress and death cues. This prompted the hypothesis that LEA proteins are central to mitochondria mechanisms that connect bioenergetics with cell responses to stress and death signaling. In support of this hypothesis, recent studies have demonstrated that mammalian LEA protein PRELI can act as a biochemical hub, which upholds mitochondria energy metabolism, while concomitantly promoting B cell resistance to stress and induced death. Hence, it is important to define in vivo the physiological relevance of PRELI expression.

Methods and findings: Given the ubiquitous PRELI expression during mouse development, embryo lethality could be anticipated. Thus, conditional gene targeting was engineered by insertion of flanking loxP (flox)/Cre recognition sites on PRELI chromosome 13 (Chr 13) locus to abort its expression in a tissue-specific manner. After obtaining mouse lines with homozygous PRELI floxed alleles (PRELI(f/f)), the animals were crossed with CD19-driven Cre-recombinase transgenic mice to investigate whether PRELI inactivation could affect B-lymphocyte physiology and survival. Mice with homozygous B cell-specific PRELI deletion (CD19-Cre/Chr13 PRELI(-/-)) bred normally and did not show any signs of morbidity. Histopathology and flow cytometry analyses revealed that cell lineage identity, morphology, and viability were indistinguishable between wild type CD19-Cre/Chr13 PRELI(+/+) and CD19-Cre/Chr13 PRELI(-/-) deficient mice. Furthermore, B cell PRELI gene expression seemed unaffected by Chr13 PRELI gene targeting. However, identification of additional PRELI loci in mouse Chr1 and Chr5 provided an explanation for the paradox between LEA-dependent cytoprotection and the seemingly futile consequences of Chr 13 PRELI gene inactivation. Importantly, PRELI expression from spare gene loci appeared ample to surmount Chr 13 PRELI gene deficiency.

Conclusions: These findings suggest that PRELI is a vital LEA B cell protein with failsafe genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Survival / genetics
  • Chromosomes, Human / genetics*
  • Gene Deletion
  • Gene Expression Regulation, Developmental / genetics
  • Genetic Loci / genetics*
  • Genomic Imprinting / genetics
  • Humans
  • Mice
  • Mitochondrial Proteins / chemistry
  • Mitochondrial Proteins / deficiency
  • Mitochondrial Proteins / genetics*
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism

Substances

  • Mitochondrial Proteins
  • PRELI protein, mouse
  • PRELID1 protein, human
  • RNA, Messenger