Genome scan for teratogen-induced clefting susceptibility loci in the mouse: evidence of both allelic and locus heterogeneity distinguishing cleft lip and cleft palate.

Abstract:

:Nonsyndromic clefting of the lip and palate in humans has a highly complex etiology, with both multiple genetic loci and exposure to teratogens influencing susceptibility. Previous studies using mouse models have examined only very small portions of the genome. Here we report the findings of a genome-wide search for susceptibility genes for teratogen-induced clefting in the AXB and BXA set of recombinant inbred mouse strains. We compare results obtained using phenytoin (which induces cleft lip) and 6-aminonicotinamide (which induces cleft palate). We use a new statistical approach based on logistic regression suitable for these categorical data to identify several chromosomal regions as possible locations of clefting susceptibility loci, and we review candidate genes located within each region. Because cleft lip and cleft palate do not frequently co-aggregate in human families and because these structures arise semi-independently during development, these disorders are usually considered to be distinct in etiology. Our data, however, implicate several of the same chromosomal regions for both forms of clefting when teratogen-induced. Furthermore, different parental strain alleles are usually associated with clefting of the lip versus that of the palate (i.e., allelic heterogeneity). Because several other chromosomal regions are associated with only one form of clefting, locus heterogeneity also appears to be involved. Our findings in this mouse model suggest several priority areas for evaluation in human epidemiological studies.

authors

Diehl SR,Erickson RP

doi

10.1073/pnas.94.10.5231

subject

Has Abstract

pub_date

1997-05-13 00:00:00

pages

5231-6

issue

10

eissn

0027-8424

issn

1091-6490

journal_volume

94

pub_type

杂志文章
  • Distinct effectors of platelet-derived growth factor receptor-alpha signaling are required for cell survival during embryogenesis.

    abstract::Platelet-derived growth factor receptor (PDGFR) signaling is essential for normal embryonic development in many organisms, including frog, mouse, zebrafish, and sea urchin. The mode of action of PDGFR signaling during early development is poorly understood, however, mostly because inhibition of signaling through eithe...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0502885102

    authors: Van Stry M,Kazlauskas A,Schreiber SL,Symes K

    更新日期:2005-06-07 00:00:00

  • Serotype conversion in Vibrio cholerae O1.

    abstract::Vibrio cholerae O1 exists as two major serotypes, Inaba and Ogawa, which are associated with the O antigen of the lipopolysaccharide and are capable of unequal reciprocal interconversion. The 20-kilobase rfb regions encoding O-antigen biosynthesis in strains 569B (Inaba) and O17 (Ogawa) have been cloned in Escherichia...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.89.7.2566

    authors: Stroeher UH,Karageorgos LE,Morona R,Manning PA

    更新日期:1992-04-01 00:00:00

  • Insights into bacterial cell division from a structure of EnvC bound to the FtsX periplasmic domain.

    abstract::FtsEX is a bacterial ABC transporter that regulates the activity of periplasmic peptidoglycan amidases via its interaction with the murein hydrolase activator, EnvC. In Escherichia coli, FtsEX is required to separate daughter cells after cell division and for viability in low-osmolarity media. Both the ATPase activity...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.2017134117

    authors: Cook J,Baverstock TC,McAndrew MBL,Stansfeld PJ,Roper DI,Crow A

    更新日期:2020-11-10 00:00:00

  • Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.

    abstract::Both stem cells and mast cells express c-kit and proliferate after exposure to c-kit ligand. Mutations in c-kit may enhance or interfere with the ability of c-kit receptor to initiate the intracellular pathways resulting in cell proliferation. These observations suggested to us that mastocytosis might in some patients...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.23.10560

    authors: Nagata H,Worobec AS,Oh CK,Chowdhury BA,Tannenbaum S,Suzuki Y,Metcalfe DD

    更新日期:1995-11-07 00:00:00

  • Subcortical differentiation of stop consonants relates to reading and speech-in-noise perception.

    abstract::Children with reading impairments have deficits in phonological awareness, phonemic categorization, speech-in-noise perception, and psychophysical tasks such as frequency and temporal discrimination. Many of these children also exhibit abnormal encoding of speech stimuli in the auditory brainstem, even though response...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0901123106

    authors: Hornickel J,Skoe E,Nicol T,Zecker S,Kraus N

    更新日期:2009-08-04 00:00:00

  • Molecular engineering of an efficient four-domain DAF-MCP chimera reveals the presence of functional modularity in RCA proteins.

    abstract::The complement system is highly efficient in targeting pathogens, but lack of its apposite regulation results in host-cell damage, which is linked to diseases. Thus, complement activation is tightly regulated by a series of proteins, which primarily belong to the regulators of complement activation (RCA) family. Struc...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1818573116

    authors: Panwar HS,Ojha H,Ghosh P,Barage SH,Raut S,Sahu A

    更新日期:2019-05-14 00:00:00

  • Activation of human T lymphocytes: differential effects of CD3- and CD8-mediated signals.

    abstract::T cells are activated physiologically by triggering the T-cell receptor-CD3 complex. There is evidence that invariant accessory molecules on the T-cell membrane (CD8 and CD4) are involved in the major histocompatibility complex-restricted recognition process. Moreover, binding and crosslinking of these accessory molec...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.85.24.9689

    authors: Samstag Y,Emmrich F,Staehelin T

    更新日期:1988-12-01 00:00:00

  • Constituents and functional implications of the rat default mode network.

    abstract::The default mode network (DMN) has been suggested to support a variety of self-referential functions in humans and has been fractionated into subsystems based on distinct responses to cognitive tasks and functional connectivity architecture. Such subsystems are thought to reflect functional hierarchy and segregation w...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1601485113

    authors: Hsu LM,Liang X,Gu H,Brynildsen JK,Stark JA,Ash JA,Lin CP,Lu H,Rapp PR,Stein EA,Yang Y

    更新日期:2016-08-02 00:00:00

  • Linkage of recognition and replication functions by assembling combinatorial antibody Fab libraries along phage surfaces.

    abstract::We describe a method based on a phagemid vector with helper phage rescue for the construction and rapid analysis of combinatorial antibody Fab libraries. This approach should allow the generation and selection of many monoclonal antibodies. Antibody genes are expressed in concert with phage morphogenesis, thereby allo...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.88.10.4363

    authors: Kang AS,Barbas CF,Janda KD,Benkovic SJ,Lerner RA

    更新日期:1991-05-15 00:00:00

  • Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain.

    abstract::Neurogenesis has recently been observed in the adult human brain, suggesting the possibility of endogenous neural repair. However, the augmentation of neurogenesis in the adult human brain in response to neuronal cell loss has not been demonstrated. This study was undertaken to investigate whether neurogenesis occurs ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1532244100

    authors: Curtis MA,Penney EB,Pearson AG,van Roon-Mom WM,Butterworth NJ,Dragunow M,Connor B,Faull RL

    更新日期:2003-07-22 00:00:00

  • Facilitated dissociation of transcription factors from single DNA binding sites.

    abstract::The binding of transcription factors (TFs) to DNA controls most aspects of cellular function, making the understanding of their binding kinetics imperative. The standard description of bimolecular interactions posits that TF off rates are independent of TF concentration in solution. However, recent observations have r...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1701884114

    authors: Kamar RI,Banigan EJ,Erbas A,Giuntoli RD,Olvera de la Cruz M,Johnson RC,Marko JF

    更新日期:2017-04-18 00:00:00

  • Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacin.

    abstract::X-linked hypophosphatemia is the most prevalent inherited form of rickets. In this disorder, rickets results from hyperphosphaturia and inappropriately normal levels of 1,25(OH)2-vitamin D. Current therapy with oral phosphate and vitamin D improves the rickets, but has significant morbidity and does not significantly ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1834060100

    authors: Baum M,Loleh S,Saini N,Seikaly M,Dwarakanath V,Quigley R

    更新日期:2003-09-16 00:00:00

  • Prediction of intracellular exposure bridges the gap between target- and cell-based drug discovery.

    abstract::Inadequate target exposure is a major cause of high attrition in drug discovery. Here, we show that a label-free method for quantifying the intracellular bioavailability (Fic) of drug molecules predicts drug access to intracellular targets and hence, pharmacological effect. We determined Fic in multiple cellular assay...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1701848114

    authors: Mateus A,Gordon LJ,Wayne GJ,Almqvist H,Axelsson H,Seashore-Ludlow B,Treyer A,Matsson P,Lundbäck T,West A,Hann MM,Artursson P

    更新日期:2017-07-25 00:00:00

  • Functional organization of the cat's visual cortex after prenatal interruption of binocular interactions.

    abstract::The functional consequences of interrupting in utero binocular interactions were studied by recording from single cells in area 17 of adult cats that had one eye removed at least 2 wk before birth. In these animals all cortical neurons could be driven by the remaining eye, and in tangential microelectrode penetrations...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.82.11.3901

    authors: Shook BL,Maffei L,Chalupa LM

    更新日期:1985-06-01 00:00:00

  • Detection of an altered DNA conformation at specific sites in chromatin and supercoiled DNA.

    abstract::We show that bromoacetaldehyde, which reacts selectively at the N-1 and N-6 positions of unpaired adenine and at the N-3 and N-4 positions of unpaired cytosine residues reacts with chromosomal DNA in intact cells at probable regulatory sequences near active genes. A region of about 200 base pairs 5' to the chicken bet...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.80.14.4389

    authors: Kohwi-Shigematsu T,Gelinas R,Weintraub H

    更新日期:1983-07-01 00:00:00

  • Unveiling functional protein motions with picosecond x-ray crystallography and molecular dynamics simulations.

    abstract::A joint analysis of all-atom molecular dynamics (MD) calculations and picosecond time-resolved x-ray structures was performed to gain single-molecule insights into mechanisms of protein function. Ensemble-averaged MD simulations of the L29F mutant of myoglobin after ligand dissociation reproduce the direction, amplitu...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0405295101

    authors: Hummer G,Schotte F,Anfinrud PA

    更新日期:2004-10-26 00:00:00

  • The deep, hot biosphere: Twenty-five years of retrospection.

    abstract::Twenty-five years ago this month, Thomas Gold published a seminal manuscript suggesting the presence of a "deep, hot biosphere" in the Earth's crust. Since this publication, a considerable amount of attention has been given to the study of deep biospheres, their role in geochemical cycles, and their potential to infor...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1701266114

    authors: Colman DR,Poudel S,Stamps BW,Boyd ES,Spear JR

    更新日期:2017-07-03 00:00:00

  • Supercooled spin liquid state in the frustrated pyrochlore Dy2Ti2O7.

    abstract::A "supercooled" liquid develops when a fluid does not crystallize upon cooling below its ordering temperature. Instead, the microscopic relaxation times diverge so rapidly that, upon further cooling, equilibration eventually becomes impossible and glass formation occurs. Classic supercooled liquids exhibit specific id...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1511006112

    authors: Kassner ER,Eyvazov AB,Pichler B,Munsie TJ,Dabkowska HA,Luke GM,Davis JC

    更新日期:2015-07-14 00:00:00

  • LsrF, a coenzyme A-dependent thiolase, catalyzes the terminal step in processing the quorum sensing signal autoinducer-2.

    abstract::The quorum sensing signal autoinducer-2 (AI-2) regulates important bacterial behaviors, including biofilm formation and the production of virulence factors. Some bacteria, such as Escherichia coli, can quench the AI-2 signal produced by a variety of species present in the environment, and thus can influence AI-2-depen...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1408691111

    authors: Marques JC,Oh IK,Ly DC,Lamosa P,Ventura MR,Miller ST,Xavier KB

    更新日期:2014-09-30 00:00:00

  • Random circular permutation of genes and expressed polypeptide chains: application of the method to the catalytic chains of aspartate transcarbamoylase.

    abstract::Recent studies on proteins whose N and C termini are in close proximity have demonstrated that folding of polypeptide chains and assembly of oligomers can be accomplished with circularly permuted chains. As yet no methodical study has been conducted to determine how extensively new termini can be introduced and where ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.93.21.11591

    authors: Graf R,Schachman HK

    更新日期:1996-10-15 00:00:00

  • Operant matching is a generic outcome of synaptic plasticity based on the covariance between reward and neural activity.

    abstract::The probability of choosing an alternative in a long sequence of repeated choices is proportional to the total reward derived from that alternative, a phenomenon known as Herrnstein's matching law. This behavior is remarkably conserved across species and experimental conditions, but its underlying neural mechanisms st...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0505220103

    authors: Loewenstein Y,Seung HS

    更新日期:2006-10-10 00:00:00

  • TNFalpha induces ABCA1 through NF-kappaB in macrophages and in phagocytes ingesting apoptotic cells.

    abstract::Recent evidence suggests that tumor necrosis factor alpha (TNFalpha) signaling in vascular cells can have antiatherogenic consequences, but the mechanisms are poorly understood. TNFalpha is released by free cholesterol-loaded apoptotic macrophages, and the clearance of these cells by phagocytic macrophages may help to...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0510345103

    authors: Gerbod-Giannone MC,Li Y,Holleboom A,Han S,Hsu LC,Tabas I,Tall AR

    更新日期:2006-02-28 00:00:00

  • Dynamic coupling of whole-brain neuronal and neurotransmitter systems.

    abstract::Remarkable progress has come from whole-brain models linking anatomy and function. Paradoxically, it is not clear how a neuronal dynamical system running in the fixed human anatomical connectome can give rise to the rich changes in the functional repertoire associated with human brain function, which is impossible to ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1921475117

    authors: Kringelbach ML,Cruzat J,Cabral J,Knudsen GM,Carhart-Harris R,Whybrow PC,Logothetis NK,Deco G

    更新日期:2020-04-28 00:00:00

  • Architecture of a minimal signaling pathway explains the T-cell response to a 1 million-fold variation in antigen affinity and dose.

    abstract::T cells must respond differently to antigens of varying affinity presented at different doses. Previous attempts to map peptide MHC (pMHC) affinity onto T-cell responses have produced inconsistent patterns of responses, preventing formulations of canonical models of T-cell signaling. Here, a systematic analysis of T-c...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1608820113

    authors: Lever M,Lim HS,Kruger P,Nguyen J,Trendel N,Abu-Shah E,Maini PK,van der Merwe PA,Dushek O

    更新日期:2016-10-25 00:00:00

  • Cre-mediated site-specific translocation between nonhomologous mouse chromosomes.

    abstract::Chromosome rearrangements, such as large deletions, inversions, or translocations, mediate migration of large DNA segments within or between chromosomes, which can have major effects on cellular genetic control. A method for chromosome manipulation would be very useful for studying the consequences of large-scale DNA ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.16.7376

    authors: Van Deursen J,Fornerod M,Van Rees B,Grosveld G

    更新日期:1995-08-01 00:00:00

  • Geoelectric potential changes: possible precursors to earthquakes in Japan.

    abstract::Whether electromagnetic precursors to earthquakes (EQs) exist is an important question not only for EQ prediction but also for understanding the physical processes of EQ generation. Slow transient geoelectric potential changes have been observed before several recent EQs in Japan. In most cases, they appeared 1-19 day...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.97.9.4561

    authors: Uyeda S,Nagao T,Orihara Y,Yamaguchi T,Takahashi I

    更新日期:2000-04-25 00:00:00

  • Transposition of DNase hypersensitive chromatin to the nuclear periphery coincides temporally with nerve growth factor-induced up-regulation of gene expression in PC12 cells.

    abstract::To test the hypothesis that the nonrandom organization of the contents of interphase nuclei represents a compartmentalization of function, we examined the relative, spatial relationship of small nuclear ribonucleoproteins (snRNPs) and of DNase I hypersensitive chromatin (DHC) in rat pheochromocytoma cells. In controls...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.93.21.11646

    authors: Park PC,De Boni U

    更新日期:1996-10-15 00:00:00

  • Dual regulation of NR2B and NR2C expression by NMDA receptor activation in mouse cerebellar granule cell cultures.

    abstract::In the developing cerebellum, switching of the subunit composition of NMDA receptors occurs in granule cells from NR2B-containing receptors to NR2C-containing ones. We investigated the mechanisms underlying switching of NR2B and NR2C subunit composition in primary cultures of mouse granule cells at the physiological K...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0805574105

    authors: Iijima K,Abe H,Okazawa M,Moriyoshi K,Nakanishi S

    更新日期:2008-08-19 00:00:00

  • Bradyrhizobium japonicum rhizobitoxine genes and putative enzyme functions: expression requires a translational frameshift.

    abstract::Some strains of Bradyrhizobium japonicum produce rhizobitoxine, a phytotoxin that causes foliar chlorosis on susceptible host plants. We have previously obtained Tn5-induced rhizobitoxine null mutants of B. japonicum. DNA sequence analysis of the region surrounding two Tn5 insertions identifies two overlapping open re...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.90.7.2641

    authors: Ruan X,Zhang C,Peters NK

    更新日期:1993-04-01 00:00:00

  • Elevated dust depositions in West Asia linked to ocean-atmosphere shifts during North Atlantic cold events.

    abstract::Rapid North Atlantic cooling events during the last deglaciation caused atmospheric reorganizations on global and regional scales. Their impact on Asian climate has been investigated for monsoonal domains, but remains largely unknown in westerly wind-dominated semiarid regions. Here we generate a dust record from sout...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.2004071117

    authors: Safaierad R,Mohtadi M,Zolitschka B,Yokoyama Y,Vogt C,Schefuß E

    更新日期:2020-08-04 00:00:00