Genomes and Genes
Experts and Doctors on testis in Bethesda, Maryland, United States
Locale: Bethesda, Maryland, United States
- Daniel J, Pellegrini M, Lee J, Paull T, Feigenbaum L, Nussenzweig A. Multiple autophosphorylation sites are dispensable for murine ATM activation in vivo. J Cell Biol. 2008;183:777-83 pubmed publisher..These results lend further support to the notion that ATM autophosphorylation correlates with the DNA damage-induced activation of the kinase but is not required for ATM function in vivo. ..
- Ohnmacht G, Wang E, Mocellin S, Abati A, Filie A, Fetsch P, et al. Short-term kinetics of tumor antigen expression in response to vaccination. J Immunol. 2001;167:1809-20 pubmed..This study provides an insight into the natural history of tumors and defines a strategy for the characterization of gene expression in tumors during therapy. ..
- Lee Y, Park M, Folk J. Diamine and triamine analogs and derivatives as inhibitors of deoxyhypusine synthase: synthesis and biological activity. J Med Chem. 1995;38:3053-61 pubmed..H.; Wolff, E. C.; Lee, Y. B.; Folk, J. E. J. Biol. Chem. 269, 1994, 27827-27832), the effective growth arrest exerted by several of the newly synthesized compounds cannot be attributed to inhibition of hypusine synthesis. ..
- Latronico A, Anasti J, Arnhold I, Rapaport R, Mendonca B, Bloise W, et al. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med. 1996;334:507-12 pubmed
- Mischak H, Goodnight J, Henderson D, Osada S, Ohno S, Mushinski J. Unique expression pattern of protein kinase C-theta: high mRNA levels in normal mouse testes and in T-lymphocytic cells and neoplasms. FEBS Lett. 1993;326:51-5 pubmed..3 kb and 3.8 kb. Lower levels of similar size transcripts were found in normal brain, B lymphocytes and B-lymphocytic tumors and cell lines. ..
- Corpe C, Bovelander F, Munoz C, Hoekstra J, Simpson I, Kwon O, et al. Cloning and functional characterization of the mouse fructose transporter, GLUT5. Biochim Biophys Acta. 2002;1576:191-7 pubmed
- Bera T, Saint Fleur A, Ha D, Yamada M, Lee Y, Lee B, et al. Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells. Stem Cells Dev. 2008;17:325-32 pubmed publisher..There is no detectable POTE gene expression in fetal tissues (ages 16-36 weeks). The POTE paralogs that are expressed in ES cells may have a specific function during lineage-specific differentiation of ES cells. ..
- Kouprina N, Mullokandov M, Rogozin I, Collins N, Solomon G, Otstot J, et al. The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids. Proc Natl Acad Sci U S A. 2004;101:3077-82 pubmed publisher..Thus, evolution of the SPANX family appears to have involved positive selection that affected not only the protein sequence but also the synonymous sites in the coding sequence...
- Vong Q, Li Y, Lau Y, Dym M, Rennert O, Chan W. Structural characterization and expression studies of Dby and its homologs in the mouse. J Androl. 2006;27:653-61 pubmed..These observations indicate that unlike DBY in humans, the role of Dby in spermatogenesis is less obvious in the mouse and its biologic activity may be replaced by that of Ddx3 and D1Pas1. ..
- Good P. A conserved family of elav-like genes in vertebrates. Proc Natl Acad Sci U S A. 1995;92:4557-61 pubmed..Surprisingly, elrA is expressed in all adult tissues tested and at all times during development. Thus, the widely expressed elrA is expected to have a related function in all cells. ..
- Tombran Tink J, Mazuruk K, Rodriguez I, Chung D, Linker T, Englander E, et al. Organization, evolutionary conservation, expression and unusual Alu density of the human gene for pigment epithelium-derived factor, a unique neurotrophic serpin. Mol Vis. 1996;2:11 pubmed
- Romanienko P, Camerini Otero R. The mouse Spo11 gene is required for meiotic chromosome synapsis. Mol Cell. 2000;6:975-87 pubmed..We speculate that there is an additional role for Spo11, after it generates DSBs, in synapsis. ..
- Brinkmann U, Vasmatzis G, Lee B, Yerushalmi N, Essand M, Pastan I. PAGE-1, an X chromosome-linked GAGE-like gene that is expressed in normal and neoplastic prostate, testis, and uterus. Proc Natl Acad Sci U S A. 1998;95:10757-62 pubmed..The expression of PAGE-1 in normal and malignant prostate, testicular, and uterine tissues makes it a possible target for the diagnosis and possibly for the vaccine-based therapy of neoplasms of prostate, testis, and uterus. ..
- Dufau M, Tsai Morris C. Gonadotropin-regulated testicular helicase (GRTH/DDX25): an essential regulator of spermatogenesis. Trends Endocrinol Metab. 2007;18:314-20 pubmed..The association of GRTH mutations with male infertility underlines the importance of GRTH as a central, post-transcriptional regulator of spermatogenesis. ..
- Miyamoto T, Hasuike S, Yogev L, Maduro M, Ishikawa M, Westphal H, et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet. 2003;362:1714-9 pubmed..We suggest that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein via dominant negative interference. ..
- Bera T, Zimonjic D, Popescu N, Sathyanarayana B, Kumar V, Lee B, et al. POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer. Proc Natl Acad Sci U S A. 2002;99:16975-80 pubmed..The existence of a large number of closely related but rapidly diverging members, their location on multiple chromosomes and their limited expression pattern suggest an important role for the POTE gene family in reproductive processes. ..
- Bera T, Iavarone C, Kumar V, Lee S, Lee B, Pastan I. MRP9, an unusual truncated member of the ABC transporter superfamily, is highly expressed in breast cancer. Proc Natl Acad Sci U S A. 2002;99:6997-7002 pubmed..Because of the unusual topology of the two variants of MRP9, we speculate that they may have a different function from other family members...
- Dey B, Furlanetto R, Nissley S. Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor. Gene. 1998;209:175-83 pubmed..Our findings suggest that hp55 gamma interacts with the IGFIR and IR and may be involved in PI 3-kinase activation by these receptors. ..
- Bera T, Maitra R, Iavarone C, Salvatore G, Kumar V, Vincent J, et al. PATE, a gene expressed in prostate cancer, normal prostate, and testis, identified by a functional genomic approach. Proc Natl Acad Sci U S A. 2002;99:3058-63 pubmed..Restricted expression of PATE makes it a potential candidate for the immunotherapy of prostate cancer. ..
- Maitra R, Grigoryev D, Bera T, Pastan I, Lee B. Cloning, molecular characterization, and expression analysis of Copine 8. Biochem Biophys Res Commun. 2003;303:842-7 pubmed..Strongest expression of Copine 8 mRNA is seen in the prostate, heart, and brain. Taken together, this data suggest that Copine 8 may have an important role to play in prostate regulation and development. ..
- Nagashima M, Shiseki M, Pedeux R, Okamura S, Kitahama Shiseki M, Miura K, et al. A novel PHD-finger motif protein, p47ING3, modulates p53-mediated transcription, cell cycle control, and apoptosis. Oncogene. 2003;22:343-50 pubmed..p47ING3 activates p53-transactivated promoters, including promoters of p21/waf1 and bax. Thus, we have isolated a novel ING family gene, p47ING3, which modulates p53-mediated transcription, cell cycle control, and apoptosis. ..
- Hu W, Gauthier L, Baibakov B, Jimenez Movilla M, Dean J. FIGLA, a basic helix-loop-helix transcription factor, balances sexually dimorphic gene expression in postnatal oocytes. Mol Cell Biol. 2010;30:3661-71 pubmed publisher..These data demonstrate that physiological expression of Figla plays a critical dual role in activation of oocyte-associated genes and repression of sperm-associated genes during normal postnatal oogenesis. ..
- Temple J, Scordalakes E, Bodo C, Gustafsson J, Rissman E. Lack of functional estrogen receptor beta gene disrupts pubertal male sexual behavior. Horm Behav. 2003;44:427-34 pubmed..Furthermore, our data suggest that a primary role of ERbeta may be to regulate ejaculatory behavior. ..
- Bera T, Hahn Y, Lee B, Pastan I. TEPP, a new gene specifically expressed in testis, prostate, and placenta and well conserved in chordates. Biochem Biophys Res Commun. 2003;312:1209-15 pubmed..Selective expression of TEPP in testis, prostate, and in placenta and its high conservation among different species indicate that TEPP might have a role in reproductive biology. ..
- Lokanga R, Entezam A, Kumari D, Yudkin D, Qin M, Smith C, et al. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat. 2013;34:157-66 pubmed publisher..This could explain, at least in part, the variable penetrance seen in some of these disorders. ..
- Li J, Sheng Y, Tang P, Tsai Morris C, Dufau M. Tissue-cell- and species-specific expression of gonadotropin-regulated long chain acyl-CoA synthetase (GR-LACS) in gonads, adrenal and brain. Identification of novel forms in the brain. J Steroid Biochem Mol Biol. 2006;98:207-17 pubmed..GR-LACS variants exhibit small but significant dominant negative effects on the FACS activity of the long form. GR-LACS variants may regulate the long form's activity in the brain. ..
- Loukinov D, Pugacheva E, Vatolin S, Pack S, Moon H, Chernukhin I, et al. BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma. Proc Natl Acad Sci U S A. 2002;99:6806-11 pubmed..Because BORIS bears the same DNA-binding domain that CTCF employs for recognition of methylation marks in soma, BORIS is a candidate protein for the elusive epigenetic reprogramming factor acting in the male germ line. ..
- Liu M, Eiden M. Role of human endogenous retroviral long terminal repeats (LTRs) in maintaining the integrity of the human germ line. Viruses. 2011;3:901-5 pubmed publisher..The ability of ERV-9 regulatory regions to contribute to the maintenance of male germ line stability is yet another example of how ERVs have evolved to serve an important function in the physiology of their human hosts. ..
- Kobayashi S, Satomura K, Levsky J, Sreenath T, Wistow G, Semba I, et al. Expression pattern of macrophage migration inhibitory factor during embryogenesis. Mech Dev. 1999;84:153-6 pubmed..Here we report a detailed characterization of MIF expression during mouse embryogenesis. The MIF expression pattern was found to parallel tissues specification and organogenesis. ..
- Lindell S, Schwandt M, Sun H, Sparenborg J, Björk K, Kasckow J, et al. Functional NPY variation as a factor in stress resilience and alcohol consumption in rhesus macaques. Arch Gen Psychiatry. 2010;67:423-31 pubmed publisher..Our results suggest a role for NPY promoter variation in the susceptibility to alcohol use disorders and point to NPY as a candidate for examining gene x environment interactions in humans. ..
- Fernandez Capetillo O, Mahadevaiah S, Celeste A, Romanienko P, Camerini Otero R, Bonner W, et al. H2AX is required for chromatin remodeling and inactivation of sex chromosomes in male mouse meiosis. Dev Cell. 2003;4:497-508 pubmed..2 and XMR, do not preferentially localize with the sex chromosomes in the absence of H2AX. Thus, H2AX is required for the chromatin remodeling and associated silencing in male meiosis...
- Avila N, Shawker T, Jones J, Cutler G, Merke D. Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings. AJR Am J Roentgenol. 1999;172:1235-8 pubmed..The purpose of this study was to describe the serial sonographic findings and clinical and laboratory data obtained during follow-up of patients with congenital adrenal hyperplasia in whom testicular adrenal rest tissue develops...
- Barlow C, Liyanage M, Moens P, Tarsounas M, Nagashima K, Brown K, et al. Atm deficiency results in severe meiotic disruption as early as leptonema of prophase I. Development. 1998;125:4007-17 pubmed..We propose a model in which ATM acts to monitor meiosis by participation in the regulation or surveillance of meiotic progression, similar to its role as a monitor of mitotic cell cycle progression...
- Brady J, Piatigorsky J. A mouse cDNA encoding a protein with zinc-fingers and a KRAB domain shows similarity to human profilaggrin. Gene. 1994;149:299-304 pubmed..Sequences that hybridize to this cDNA are detectable in ten other mammalian species. ..
- Eun S, Feng L, Cedeno Rosario L, Gan Q, Wei G, Cui K, et al. Polycomb Group Gene E(z) Is Required for Spermatogonial Dedifferentiation in Drosophila Adult Testis. J Mol Biol. 2017;429:2030-2041 pubmed publisher..Taken together, our data suggest that E(z) acts intrinsically in germ cells to activate dedifferentiation and thus replenish lost GSCs during both aging and tissue regeneration. ..
- Kaneko K, DePamphilis M. Soggy, a spermatocyte-specific gene, lies 3.8 kb upstream of and antipodal to TEAD-2, a transcription factor expressed at the beginning of mouse development. Nucleic Acids Res. 2000;28:3982-90 pubmed..Since mTEAD-2 and mSgy were not expressed in the same cells, the mSgy/mTEAD-2 locus provides a unique paradigm for differential regulation of gene expression during mammalian development. ..
- Chi Y, Cheng L, Myers T, Ward J, Williams E, Su Q, et al. Requirement for Sun1 in the expression of meiotic reproductive genes and piRNA. Development. 2009;136:965-73 pubmed publisher..These findings raise a heretofore unrecognized role of Sun1 in the selective gene expression of coding and non-coding RNAs needed for gametogenesis. ..
- Aoki K, Kurooka M, Chen J, Petryniak J, Nabel E, Nabel G. Extracellular matrix interacts with soluble CD95L: retention and enhancement of cytotoxicity. Nat Immunol. 2001;2:333-7 pubmed..The retention of soluble CD95L on extracellular matrices is likely to play an important role in the development of peripheral tolerance in immune-privileged sites. ..
- Hellsten E, Bernard D, Owens J, Eckhaus M, Suchy S, Nussbaum R. Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase. Biol Reprod. 2002;66:1522-30 pubmed
- Risinger J, Chandramouli G, Maxwell G, Custer M, Pack S, Loukinov D, et al. Global expression analysis of cancer/testis genes in uterine cancers reveals a high incidence of BORIS expression. Clin Cancer Res. 2007;13:1713-9 pubmed..Given the high incidence of BORIS expression and its possible regulatory role, an examination of BORIS function in the etiology of these cancers is warranted. ..
- Brinkmann U, Brinkmann E, Gallo M, Pastan I. Cloning and characterization of a cellular apoptosis susceptibility gene, the human homologue to the yeast chromosome segregation gene CSE1. Proc Natl Acad Sci U S A. 1995;92:10427-31 pubmed..Thus, CAS appears to play an important role in both toxin and tumor necrosis factor-mediated cell death, as well as in cell proliferation. ..
- Tang P, Tsai Morris C, Dufau M. Cloning and characterization of a hormonally regulated rat long chain acyl-CoA synthetase. Proc Natl Acad Sci U S A. 2001;98:6581-6 pubmed..GR-LACS may contribute to the provision of energy requirements and to the biosynthesis of steroid precursors and could participate through acyl-CoA's multiple functions in the regulation of the male gonad. ..
- Missirlis F, Holmberg S, Georgieva T, Dunkov B, Rouault T, Law J. Characterization of mitochondrial ferritin in Drosophila. Proc Natl Acad Sci U S A. 2006;103:5893-8 pubmed..The conservation of mitochondrial ferritin in an insect species underscores the importance of this iron-storage molecule. ..
- Bellani M, Romanienko P, Cairatti D, Camerini Otero R. SPO11 is required for sex-body formation, and Spo11 heterozygosity rescues the prophase arrest of Atm-/- spermatocytes. J Cell Sci. 2005;118:3233-45 pubmed