1. Licensing of primordial germ cells for gametogenesis depends on genital ridge signaling.

    PLoS Genetics 11(3):e1005019 (2015) PMID 25739037

    In mouse embryos at mid-gestation, primordial germ cells (PGCs) undergo licensing to become gametogenesis-competent cells (GCCs), gaining the capacity for meiotic initiation and sexual differentiation. GCCs then initiate either oogenesis or spermatogenesis in response to gonadal cues. Germ cell ...
  2. The E2 ubiquitin-conjugating enzyme UBE2J1 is required for spermiogenesis in mice.

    Journal of Biological Chemistry 289(50):34490 (2014) PMID 25320092 PMCID PMC4263858

    ER-resident proteins destined for degradation are dislocated into the cytosol by components of the ER quality control machinery for proteasomal degradation. Dislocation substrates are ubiquitylated in the cytosol by E2 ubiquitin-conjugating/E3 ligase complexes. UBE2J1 is one of the well-characte...
  3. The E2 Ubiquitin-conjugating Enzyme UBE2J1 Is Required for Spermiogenesis in Mice.

    Journal of Biological Chemistry 289(50):34490 (2014) PMID 25320092 PMCID PMC4263858

    ER-resident proteins destined for degradation are dislocated into the cytosol by components of the ER quality control machinery for proteasomal degradation. Dislocation substrates are ubiquitylated in the cytosol by E2 ubiquitin-conjugating/E3 ligase complexes. UBE2J1 is one of the well-characte...
  4. The E2 ubiquitin-conjugating enzyme UBE2J1 is required for spermiogenesis in mice.

    Journal of Biological Chemistry 289(50):34490 (2014) PMID 25320092 PMCID PMC4263858

    ER-resident proteins destined for degradation are dislocated into the cytosol by components of the ER quality control machinery for proteasomal degradation. Dislocation substrates are ubiquitylated in the cytosol by E2 ubiquitin-conjugating/E3 ligase complexes. UBE2J1 is one of the well-characte...
  5. The E2 Ubiquitin-conjugating Enzyme UBE2J1 Is Required for Spermiogenesis in Mice.

    Journal of Biological Chemistry 289(50):34490 (2014) PMID 25320092

    ER-resident proteins destined for degradation are dislocated into the cytosol by components of the ER quality control machinery for proteasomal degradation. Dislocation substrates are ubiquitylated in the cytosol by E2 ubiquitin-conjugating/E3 ligase complexes. UBE2J1 is one of the well-characte...
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  6. Excess cholesterol induces mouse egg activation and may cause female infertility.

    PNAS 111(46):E4972 (2014) PMID 25368174 PMCID PMC4246315

    The HDL receptor scavenger receptor, class B type I (SR-BI) controls the structure and fate of plasma HDL. Female SR-BI KO mice are infertile, apparently because of their abnormal cholesterol-enriched HDL particles. We examined the growth and meiotic progression of SR-BI KO oocytes and found tha...
  7. Excess cholesterol induces mouse egg activation and may cause female infertility.

    PNAS 111(46):E4972 (2014) PMID 25368174 PMCID PMC4246315

    The HDL receptor scavenger receptor, class B type I (SR-BI) controls the structure and fate of plasma HDL. Female SR-BI KO mice are infertile, apparently because of their abnormal cholesterol-enriched HDL particles. We examined the growth and meiotic progression of SR-BI KO oocytes and found tha...
  8. Sequencing the mouse y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  9. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  10. Poised chromatin in the mammalian germ line.

    Development 141(19):3619 (2014) PMID 25249456 PMCID PMC4197577

    Poised (bivalent) chromatin is defined by the simultaneous presence of histone modifications associated with both gene activation and repression. This epigenetic feature was first observed at promoters of lineage-specific regulatory genes in embryonic stem cells in culture. More recent work has ...
  11. Retinoic acid activates two pathways required for meiosis in mice.

    PLoS Genetics 10(8):e1004541 (2014) PMID 25102060 PMCID PMC4125102

    In all sexually reproducing organisms, cells of the germ line must transition from mitosis to meiosis. In mice, retinoic acid (RA), the extrinsic signal for meiotic initiation, activates transcription of Stra8, which is required for meiotic DNA replication and the subsequent processes of meiotic...
  12. A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.

    Cell 157(4):869 (2014) PMID 24813610 PMCID PMC4038154

    Fragile X syndrome, a common form of inherited intellectual disability, is caused by loss of the fragile X mental retardation protein FMRP. FMRP is present predominantly in the cytoplasm, where it regulates translation of proteins that are important for synaptic function. We identify FMRP as a c...
  13. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.

    Nature 508(7497):494 (2014) PMID 24759411 PMCID PMC4139287

    The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions of years ago genetic decay ravaged the Y chromosome, and only three per cent of its ancestral genes survived. We reconstructed the evolution of the Y chromosome across eight mammals to identify biases in gene ...
  14. No bull: upholding community standards in public sharing of biological datasets.

    PNAS 110(46):E4277 (2013) PMID 24173037 PMCID PMC3831999

  15. Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms

    Genomics 102(4):257 (2013)

    Amplicons – large, nearly identical repeats in direct or inverted orientation – are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, d...
  16. A set of genes critical to development is epigenetically poised in mouse germ cells from fetal stages through completion of meiosis.

    PNAS 110(40):16061 (2013) PMID 24043772 PMCID PMC3791702

    In multicellular organisms, germ cells carry the hereditary material from one generation to the next. Developing germ cells are unipotent gamete precursors, and mature gametes are highly differentiated, specialized cells. However, upon gamete union at fertilization, their genomes drive a totipot...
  17. Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms.

    Genomics 102(4):257 (2013) PMID 23643616 PMCID PMC3785290

    Amplicons--large, nearly identical repeats in direct or inverted orientation--are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications,...
  18. Independent specialization of the human and mouse X chromosomes for the male germ line.

    Nature Genetics 45(9):1083 (2013) PMID 23872635 PMCID PMC3758364

    We compared the human and mouse X chromosomes to systematically test Ohno's law, which states that the gene content of X chromosomes is conserved across placental mammals. First, we improved the accuracy of the human X-chromosome reference sequence through single-haplotype sequencing of amplicon...
  19. Oocyte differentiation is genetically dissociable from meiosis in mice.

    Nature Genetics 45(8):877 (2013) PMID 23770609 PMCID PMC3747777

    Oogenesis is the process by which ovarian germ cells undertake meiosis and differentiate to become eggs. In mice, Stra8 is required for the chromosomal events of meiosis to occur, but its role in differentiation remains unknown. Here we report Stra8-deficient ovarian germ cells that grow and dif...
  20. Tumor suppressor gene Rb is required for self-renewal of spermatogonial stem cells in mice.

    PNAS 110(31):12685 (2013) PMID 23858447 PMCID PMC3732951

    The retinoblastoma tumor suppressor gene Rb is essential for maintaining the quiescence and for regulating the differentiation of somatic stem cells. Inactivation of Rb in somatic stem cells typically leads to their overexpansion, often followed by increased apoptosis, defective terminal differe...