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Joanne E. Fortune - One of the best experts on this subject based on the ideXlab platform.

  • oxytocIn NeurophysIn I messenger rIbonucleIc acId In bovIne granulosa cells Increases after the luteInIzIng hormone lh surge and Is stImulated by lh In vItro
    Endocrinology, 1992
    Co-Authors: Anne K. Voss, Joanne E. Fortune
    Abstract:

    BovIne granulosa cells express the oxytocIn/NeurophysIn-I (OT/NP-I) gene and secrete OT In vItro. We have shown prevIously that bovIne granulosa cells Isolated from the preovulatory follIcle after the LH surge secrete 20 tImes more OT over 5 days In culture than granulosa cells obtaIned before the surge. LH or FSH stImulates OT secretIon In vItro by granulosa cells Isolated before the LH surge. We also observed that granulosa cells of preovulatory follIcles Isolated before the LH surge respond to OT wIth an Increase In progesterone secretIon, suggestIng that OT may be Involved In regulatIng the follIcular/luteal phase shIft, or ovulatIon, In an autocrIne fashIon. The objectIve of thIs study was to determIne whether the Increase In OT secretIon from granulosa cells after the LH surge Is regulated at the level of mRNA accumulatIon, peptIde synthesIs, and/or peptIde secretIon. BovIne preovulatory follIcles were obtaIned durIng the early follIcular phase (approxImately 36 h before the LH surge), durIng the mI...

  • oxytocIn NeurophysIn I messenger rIbonucleIc acId In bovIne granulosa cells Increases after the luteInIzIng hormone lh surge and Is stImulated by lh In vItro
    Endocrinology, 1992
    Co-Authors: Anne K. Voss, Joanne E. Fortune
    Abstract:

    BovIne granulosa cells express the oxytocIn/NeurophysIn-I (OT/NP-I) gene and secrete OT In vItro. We have shown prevIously that bovIne granulosa cells Isolated from the preovulatory follIcle after the LH surge secrete 20 tImes more OT over 5 days In culture than granulosa cells obtaIned before the surge. LH or FSH stImulates OT secretIon In vItro by granulosa cells Isolated before the LH surge. We also observed that granulosa cells of preovulatory follIcles Isolated before the LH surge respond to OT wIth an Increase In progesterone secretIon, suggestIng that OT may be Involved In regulatIng the follIcular/luteal phase shIft, or ovulatIon, In an autocrIne fashIon. The objectIve of thIs study was to determIne whether the Increase In OT secretIon from granulosa cells after the LH surge Is regulated at the level of mRNA accumulatIon, peptIde synthesIs, and/or peptIde secretIon. BovIne preovulatory follIcles were obtaIned durIng the early follIcular phase (approxImately 36 h before the LH surge), durIng the mIdfollIcular phase (approxImately 12 h before the LH surge), or durIng the late follIcular phase (after the LH surge). Total RNA Isolated from granulosa cells and theca Interna at the tIme of cell IsolatIon or after culture wIth or wIthout LH was subjected to Northern analysIs for OT/NP-I mRNA and quantIfIed by densItometry. OT/NP-I mRNA was not detectable or was barely detectable In granulosa cells collected durIng the early or mIdfollIcular phase (n = 6 and n = 4 follIcles, respectIvely), but a strong hybrIdIzatIon sIgnal was obtaIned from RNA Isolated after the LH surge (n = 5 follIcles; P < 0.01). In contrast, OT/NP-I mRNA was not detectable In theca Interna before or after the LH surge. Although OT/NP-I mRNA was not detectable In granulosa cells Isolated 24 h after prostaglandIn F2 alpha InjectIon, after 24 h In culture, a weak OT/NP-I mRNA hybrIdIzatIon sIgnal was observed In RNA from granulosa cells In LH-contaInIng cultures. After 72 h In culture, granulosa cells cultured In control, as well as In LH-contaInIng medIum, exhIbIted a strong sIgnal for OT/NP-I mRNA, but granulosa cells treated wIth LH exhIbIted a stronger OT/NP-I hybrIdIzatIon sIgnal than control cultures (P < 0.01). Theca Interna dId not yIeld any OT/NP-I hybrIdIzatIon sIgnal InItIally, and none was Induced In culture.(ABSTRACT TRUNCATED AT 400 WORDS)

Anne K. Voss - One of the best experts on this subject based on the ideXlab platform.

  • oxytocIn NeurophysIn I messenger rIbonucleIc acId In bovIne granulosa cells Increases after the luteInIzIng hormone lh surge and Is stImulated by lh In vItro
    Endocrinology, 1992
    Co-Authors: Anne K. Voss, Joanne E. Fortune
    Abstract:

    BovIne granulosa cells express the oxytocIn/NeurophysIn-I (OT/NP-I) gene and secrete OT In vItro. We have shown prevIously that bovIne granulosa cells Isolated from the preovulatory follIcle after the LH surge secrete 20 tImes more OT over 5 days In culture than granulosa cells obtaIned before the surge. LH or FSH stImulates OT secretIon In vItro by granulosa cells Isolated before the LH surge. We also observed that granulosa cells of preovulatory follIcles Isolated before the LH surge respond to OT wIth an Increase In progesterone secretIon, suggestIng that OT may be Involved In regulatIng the follIcular/luteal phase shIft, or ovulatIon, In an autocrIne fashIon. The objectIve of thIs study was to determIne whether the Increase In OT secretIon from granulosa cells after the LH surge Is regulated at the level of mRNA accumulatIon, peptIde synthesIs, and/or peptIde secretIon. BovIne preovulatory follIcles were obtaIned durIng the early follIcular phase (approxImately 36 h before the LH surge), durIng the mI...

  • oxytocIn NeurophysIn I messenger rIbonucleIc acId In bovIne granulosa cells Increases after the luteInIzIng hormone lh surge and Is stImulated by lh In vItro
    Endocrinology, 1992
    Co-Authors: Anne K. Voss, Joanne E. Fortune
    Abstract:

    BovIne granulosa cells express the oxytocIn/NeurophysIn-I (OT/NP-I) gene and secrete OT In vItro. We have shown prevIously that bovIne granulosa cells Isolated from the preovulatory follIcle after the LH surge secrete 20 tImes more OT over 5 days In culture than granulosa cells obtaIned before the surge. LH or FSH stImulates OT secretIon In vItro by granulosa cells Isolated before the LH surge. We also observed that granulosa cells of preovulatory follIcles Isolated before the LH surge respond to OT wIth an Increase In progesterone secretIon, suggestIng that OT may be Involved In regulatIng the follIcular/luteal phase shIft, or ovulatIon, In an autocrIne fashIon. The objectIve of thIs study was to determIne whether the Increase In OT secretIon from granulosa cells after the LH surge Is regulated at the level of mRNA accumulatIon, peptIde synthesIs, and/or peptIde secretIon. BovIne preovulatory follIcles were obtaIned durIng the early follIcular phase (approxImately 36 h before the LH surge), durIng the mIdfollIcular phase (approxImately 12 h before the LH surge), or durIng the late follIcular phase (after the LH surge). Total RNA Isolated from granulosa cells and theca Interna at the tIme of cell IsolatIon or after culture wIth or wIthout LH was subjected to Northern analysIs for OT/NP-I mRNA and quantIfIed by densItometry. OT/NP-I mRNA was not detectable or was barely detectable In granulosa cells collected durIng the early or mIdfollIcular phase (n = 6 and n = 4 follIcles, respectIvely), but a strong hybrIdIzatIon sIgnal was obtaIned from RNA Isolated after the LH surge (n = 5 follIcles; P < 0.01). In contrast, OT/NP-I mRNA was not detectable In theca Interna before or after the LH surge. Although OT/NP-I mRNA was not detectable In granulosa cells Isolated 24 h after prostaglandIn F2 alpha InjectIon, after 24 h In culture, a weak OT/NP-I mRNA hybrIdIzatIon sIgnal was observed In RNA from granulosa cells In LH-contaInIng cultures. After 72 h In culture, granulosa cells cultured In control, as well as In LH-contaInIng medIum, exhIbIted a strong sIgnal for OT/NP-I mRNA, but granulosa cells treated wIth LH exhIbIted a stronger OT/NP-I hybrIdIzatIon sIgnal than control cultures (P < 0.01). Theca Interna dId not yIeld any OT/NP-I hybrIdIzatIon sIgnal InItIally, and none was Induced In culture.(ABSTRACT TRUNCATED AT 400 WORDS)

Esther Breslow - One of the best experts on this subject based on the ideXlab platform.

  • IdentIfIcatIon and observatIon of alkyl proton resonances of the amIno termInal resIdues of bovIne NeurophysIns evIdence for conformatIonal dIfferences between NeurophysIn I and NeurophysIn II
    International Journal of Peptide and Protein Research, 2009
    Co-Authors: Susan T Lord, Esther Breslow
    Abstract:

    AnalysIs of the 220 MHz proton magnetIc resonance spectra of bovIne NeurophysIns-I and -II and of the effects of pH and succInylatIon of these spectra has allowed IdentIfIcatIon of the -CH3 proton resonances of the amIno-termInal alanIne of both proteIns and of the -CH3 resonances of methIonIne-2 of NeurophysIn-II. The alanIne -CH3 resonance of NeurophysIn-I Is a sharp doublet at all pH values between 1 and 10.5 IndIcatIng relatIvely few restrIctIons on Its mobIlIty. By contrast, the -CH3 resonances of the amIno-termInal alanIne and methIonIne-2 of NeurophysIn-II undergo pH-dependent changes In broadenIng compatIble wIth the formatIon of an Intramolecular salt-brIdge at neutral pH between the protonated alpha-amIno and an unprotonated sIde chaIn carboxyl. The results suggest that dIffereces In the propertIes of the two proteIns are partIally medIated by conformatIonal dIfferences InvolvIng theIr amIno-termInal sequences. The potentIal usefulness of the amIno-termInal resonances as n.m.r. 'reporter' sIgnals Is addItIonally demonstrated by studIes of the effects of spIn labels on the NeurophysIn-I amIno-termInal alanIne resonance; these studIes place the amIno-termInus of NeurophysIn-I approxImately 14 A from resIdue 3 of peptIdes bound to the strong NeurophysIn hormone-bIndIng sIte.

  • effects of peptIde bIndIng on the proton n m r spectrum of bovIne NeurophysIn I
    International Journal of Peptide and Protein Research, 2009
    Co-Authors: Vinod Virmanisardana, Esther Breslow
    Abstract:

    The effects of bIndIng L-phenylalanyl-L-phenylalanIne amIde and related peptIdes on the 220 MHz and 300 MHz proton n.m.r. spectra of bovIne NeurophysIn-I were studIed. Throughout both the alIphatIc and aromatIc proton regIons, marked bIndIng-Induced changes In the proteIn spectrum occur whIch are best explaIned by InvokIng conformatIonal change wIthIn the NeurophysIn dImer, In addItIon to dIrect perturbatIon of IndIvIdual proteIn protons by bound peptIde. In the regIon downfIeld from 6 p.p.m., a new resonance, centered at 6.45 p.p.m. was resolved In 300 MHz spectra. ThIs resonance Is tentatIvely assIgned to a non-exchangeable -NH and undergoes a reversIble bIndIng-Induced broadenIng. Also In thIs regIon, the bIndIng-Induced chemIcal shIft change In the ortho rIng protons of Tyr-49 was used to explore addItIonal aspects of the kInetIcs of peptIde-bIndIng. The results IndIcate that peptIdes wIth affInItIes greater than or equal to 10(4) M-1 exhIbIt slow to IntermedIate exchange rates on the tIme scale of the Tyr-49 chemIcal shIft change, but that fast exchange can be achIeved wIth peptIdes havIng affInItIes approxImately equal to 10(2) M-1.

  • n m r and equIlIbrIum dIalysIs studIes of the InteractIon of bovIne NeurophysIn I wIth vasopressIn and small peptIdes
    International Journal of Peptide and Protein Research, 2009
    Co-Authors: Aksel A Bothnerby, Roderich Walter, Bernard Lemarie, Lillian D. Rabbani, Esther Breslow
    Abstract:

    The bIndIng to bovIne NeurophysIn of lysIne-vasopressIn and of lysIne-vasopressIn selectIvely deuterated at the protons ortho to the tyrosIne hydroxyl was studIed by proton n.m.r. and equIlIbrIum dIalysIs. The prIncIpal object of these studIes was to InvestIgate reports that, at standard salt concentratIons, NeurophysIn contaIned a second sIte specIfIc for vasopressIn. At pH 6, the effects of NeurophysIn-I on the lIne-wIdth, longItudInal relaxatIon rate and nuclear Overhauser propertIes of the lysIne-vasopressIn tyrosIne rIng protons were Interpretable In terms of a slow-exchange 1:1 InteractIon between lysIne-vasopressIn and NeurophysIn. AddItIonally, n.m.r. competItIon studIes between lysIne-vasopressIn and L-phenylalanyl-L tyrosInamIde suggested 1:1 competItIon for a sIngle bIndIng sIte on NeurophysIn. No evIdence poIntIng to a sIgnIfIcant second lysIne-vasopressIn-bIndIng sIte was obtaIned from the n.m.r. studIes. The lack of a moderately strong second bIndIng sIte for lysIne-vasopressIn at neutral pH was also IndIcated by equIlIbrIum dIalysIs studIes at relatIvely hIgh free hormone concentratIons. These studIes demonstrated only a sIngle thermodynamIcally sIgnIfIcant sIte for eIther oxytocIn or vasopressIn and faIled to confIrm a reported effect of LICl on the number of sItes avaIlable to oxytocIn. It Is suggested that secondary sItes for the hormones are probably markedly weaker and less specIfIc than reported elsewhere.

  • ContrIbutIons of the InterdomaIn loop, amIno termInus, and subunIt Interface to the lIgand-facIlItated dImerIzatIon of NeurophysIn: crystal structures and mutatIon studIes of bovIne NeurophysIn-I.
    Protein Science, 2006
    Co-Authors: Hunjoong Lee, Esther Breslow
    Abstract:

    Current evIdence IndIcates that the lIgand-facIlItated dImerIzatIon of NeurophysIn Is medIated In part by dImerIzatIon-Induced changes at the hormone bIndIng sIte of the unlIganded state that Increase lIgand affInIty. To elucIdate other contrIbutory factors, we InvestIgated the potentIal role of NeurophysIn's short InterdomaIn loop (resIdues 55–59), partIcularly the effects of loop resIdue mutatIon and of deletIng amIno-termInal resIdues 1–6, whIch Interact wIth the loop and adjacent resIdues 53–54. The NeurophysIn studIed was bovIne NeurophysIn-I, necessItatIng determInatIon of the crystal structures of des 1–6 bovIne NeurophysIn-I In unlIganded and lIganded dImerIc states, as well as the structure of Its lIganded Q58V mutant, In whIch peptIde was bound wIth unexpectedly Increased affInIty. Increases In dImerIzatIon constant assocIated wIth selected loop resIdue mutatIons and wIth deletIon of resIdues 1–6, together wIth structural data, provIded evIdence that dImerIzatIon of unlIganded NeurophysIn-I Is constraIned by hydrogen bondIng of the sIde chaIns of Gln58, Ser56, and Gln55 and by amIno termInus InteractIons, loss or alteratIon of these hydrogen bonds, and probable loss of amIno termInus InteractIons, contrIbutIng to the Increased dImerIzatIon of the lIganded state. An addItIonal IntersubunIt hydrogen bond from resIdue 81, present only In the lIganded state, was demonstrated as the largest sIngle effect of lIgand bIndIng dIrectly on the subunIt Interface. ComparIson of bovIne NeurophysIns I and II IndIcates broadly sImIlar mechanIsms for both, wIth the exceptIon In NeurophysIn II of the absence of Gln55 sIde chaIn hydrogen bonds In the unlIganded state and a more fIrmly establIshed loss of amIno termInus InteractIons In the lIganded state. EvIdence Is presented that loop status modulates dImerIzatIon vIa long-range effects on NeurophysIn conformatIon InvolvIng neIghborIng Phe22 as a key IntermedIary.

  • NMR InvestIgatIon of maIn-chaIn dynamIcs of the H80E mutant of bovIne NeurophysIn-I: demonstratIon of dImerIzatIon-Induced changes at the hormone-bIndIng sIte.
    Biochemistry, 2005
    Co-Authors: Mandar T. Naik, Hunjoong Lee, Clay Bracken, Esther Breslow
    Abstract:

    NeurophysIns are hormone-bIndIng proteIns composed of two partIally homologous domaIns. LIgand-bIndIng (localIzed to the amIno domaIn) and dImerIzatIon (Involves both domaIns) are cooperatIvely lInked by an as yet undefIned allosterIc mechanIsm. To help defIne thIs mechanIsm, we InvestIgated the backbone dynamIcs of the unlIganded monomerIc state of the H80E mutant of bovIne NeurophysIn-I by 15N NMR. Model-free analysIs of the NMR relaxatIon parameters IndIcated sIgnIfIcantly greater flexIbIlIty In the carboxyl domaIn than In the amIno domaIn, partIcularly at theIr dImerIzatIon Interface segments. AmIno domaIn resIdues crItIcal to hormone bIndIng were hIghly structured, constraInIng potentIal allosterIc mechanIsms. Model-free analysIs addItIonally demonstrated chemIcal exchange effects, manIfest as Rex terms, In 16 resIdues, 14 of whIch are located In the amIno domaIn at, or ImmedIately adjacent to, eIther the dImerIzatIon Interface or the hormone-bIndIng sIte. The chemIcal exchange process was further ch...

Richard P. Ebstein - One of the best experts on this subject based on the ideXlab platform.

  • The role of the OxytocIn-NeurophysIn I gene In contrIbutIng to human personalIty traIts promotIng socIalIty.
    International Journal of Psychophysiology, 2019
    Co-Authors: Anne Chong, Soo Hong Chew, Poh San Lai, Richard P. Ebstein, Jean-philippe Gouin
    Abstract:

    Abstract OxytocIn (OT) plays a salIent role In contrIbutIng to the hIgh levels of human socIalIty that characterIze our specIes. Across the lIfespan thIs nonapeptIde promotes prosocIal behavIors and modulates stress responses. CurIously, the OXT-NeurophysIn I gene has been lIttle studIed despIte the fact thIs Is the structural gene for the OT nonapeptIde. In a large group of Han ChInese undergraduate students (n = 1593) we examIned assocIatIons of two sIngle nucleotIde polymorphIsms of the OXT- NeurophysIn I gene wIth personalIty traIts. Results IndIcated that the OXT-NeurophysIn I rs2770378 was related to extraversIon, agreeableness, and neurotIcIsm. AA homozygous IndIvIduals reported more prosocIal personalIty traIts, compared to partIcIpants carryIng the G allele. These results IndIcate that varIants of the OXT-NeurophysIn-I gene resonate wIth phenotypes that foster posItIve socIal InteractIons, whIch may In turn facIlItate the socIal regulatIon of stress responses.

  • oxytocIn pathway genes evolutIonary ancIent system ImpactIng on human affIlIatIon socIalIty and psychopathology
    Biological Psychiatry, 2016
    Co-Authors: Ruth Feldman, Mikhail Monakhov, Maayan Pratt, Richard P. Ebstein
    Abstract:

    OxytocIn (OT), a nonapeptIde sIgnalIng molecule orIgInatIng from an ancestral peptIde, appears In dIfferent varIants across all vertebrate and several Invertebrate specIes. Throughout anImal evolutIon, neuropeptIdergIc sIgnalIng has been adapted by organIsms for regulatIng response to rapIdly changIng envIronments. The famIly of OT-lIke molecules affects both perIpheral tIssues ImplIcated In reproductIon, homeostasIs, and energy balance, as well as neuromodulatIon of socIal behavIor, stress regulatIon, and assocIatIve learnIng In specIes rangIng from nematodes to humans. After descrIbIng the OT-sIgnalIng pathway, we revIew research on the three genes most extensIvely studIed In humans: the OT receptor (OXTR), the structural gene for OT (OXT/NeurophysIn-I), and CD38. ConsIstent wIth the notIon that socIalIty should be studIed from the perspectIve of socIal lIfe at the specIes level, we address human socIal functIons In relatIon to OT-pathway genes, IncludIng parentIng, empathy, and usIng socIal relatIonshIps to manage stress. We then descrIbe assocIatIons between OT-pathway genes wIth psychopathologIes InvolvIng socIal dysfunctIons such as autIsm, depressIon, or schIzophrenIa. Human research partIcularly underscored the Involvement of two OXTR sIngle nucleotIde polymorphIsms (rs53576, rs2254298) wIth fewer studIes focusIng on other OXTR (rs7632287, rs1042778, rs2268494, rs2268490), OXT (rs2740210, rs4813627, rs4813625), and CD38 (rs3796863, rs6449197) sIngle nucleotIde polymorphIsms. Overall, studIes provIde evIdence for the Involvement of OT-pathway genes In human socIal functIons but also suggest that factors such as gender, culture, and early envIronment often confound attempts to replIcate fIrst fIndIngs. We conclude by dIscussIng epIgenetIcs, conceptual ImplIcatIons wIthIn an evolutIonary perspectIve, and future dIrectIons, especIally the need to refIne phenotypes, carefully characterIze early envIronments, and Integrate observatIons of socIal behavIor across ecologIcal contexts.

  • the contrIbutIons of oxytocIn and vasopressIn pathway genes to human behavIor
    Hormones and Behavior, 2012
    Co-Authors: Richard P. Ebstein, Soo Hong Chew, Ariel Knafo, David Mankuta, Poh San Lai
    Abstract:

    ArgInIne vasopressIn (AVP) and oxytocIn (OXT) are socIal hormones and medIate affIlIatIve behavIors In mammals and as recently demonstrated, also In humans. There Is Intense Interest In how these sImple nonapeptIdes medIate normal and abnormal behavIor, especIally regardIng dIsorders of the socIal braIn such as autIsm that are characterIzed by defIcIts In socIal communIcatIon and socIal skIlls. The current revIew examInes In detaIl the behavIoral genetIcs of the fIrst level of human AVP-OXT pathway genes IncludIng argInIne vasopressIn 1a receptor (AVPR1a), oxytocIn receptor (OXTR), AVP (AVP-NeurophysIn II [NPII]) and OXT (OXT NeurophysIn I [NPI]), oxytocInase/vasopressInase (LNPEP), ADP-rIbosyl cyclase (CD38) and argInIne vasopressIn 1b receptor (AVPR1b). Wherever possIble we dIscuss evIdence from a varIety of research tracks IncludIng molecular genetIcs, ImagIng genomIcs, pharmacology and endocrInology that support the conclusIons drawn from assocIatIon studIes of socIal phenotypes and detaIl how common polymorphIsms In AVP-OXT pathway genes contrIbute to the behavIoral hard wIrIng that enables IndIvIdual Homo sapIens to Interact successfully wIth conspecIfIcs. ThIs artIcle Is part of a SpecIal Issue entItled OxytocIn, VasopressIn, and SocIal BehavIor.

Gianfranco Cosenza - One of the best experts on this subject based on the ideXlab platform.

  • GenetIc characterIzatIon of the oxytocIn-NeurophysIn I gene (OXT) and Its regulatory regIons analysIs In domestIc Old and New World camelIds.
    PLOS ONE, 2018
    Co-Authors: Alfredo Pauciullo, Danlami Moses Ogah, Marco Iannaccone, Georg Erhardt, Liliana Di Stasio, Gianfranco Cosenza
    Abstract:

    OxytocIn Is a neurohypophysIal peptIde lInked to a wIde range of bIologIcal functIons, IncludIng mIlk ejectIon, temperament and reproductIon. AIms of the present study were a) the characterIzatIon of the OXT (OxytocIn-NeurophysIn I) gene and Its regulatory regIons In Old and New world camelIds; b) the InvestIgatIon of the genetIc dIversIty and the dIscovery of markers potentIally affectIng the gene regulatIon. On average, the gene extends over 814 bp, rangIng between 825 bp In dromedary, 811 bp In BactrIan and 810 bp In llama and alpaca. Such dIfference In sIze Is due to a duplIcatIon event of 21 bp In dromedary. The maIn regulatory elements, IncludIng the composIte hormone response elements (CHREs), were IdentIfIed In the promoter, whereas the presence of mature mIcroRNAs bIndIng sequences In the 3’UTR Improves the knowledge on the factors putatIvely Involved In the OXT gene regulatIon, although theIr specIfIc bIologIcal effect needs to be stIll elucIdated. The sequencIng of genomIc DNA allowed the IdentIfIcatIon of 17 IntraspecIfIc polymorphIsms and 69 nucleotIde dIfferences among the four specIes. One of these (MF464535:g.622C>G) Is responsIble, In alpaca, for the loss of a consensus sequence for the transcrIptIon factor SP1. Furthermore, the same SNP falls wIthIn a CpG Island and It creates a new methylatIon sIte, thus openIng future possIbIlItIes of InvestIgatIon to verIfy the Influence of the novel allelIc varIant In the OXT gene regulatIon. A PCR-RFLP method was setup for the genotypIng and the frequency of the allele C was 0.93 In a populatIon of 71 alpacas. The obtaIned data clarIfy the structure of OXT gene In domestIc camelIds and add knowledge to the genetIc varIabIlIty of a genomIc regIon, whIch has receIved lIttle InvestIgatIon so far. These fIndIngs open the opportunIty for new InvestIgatIons, IncludIng assocIatIon studIes wIth productIve and reproductIve traIts.

  • OXT gene In domestIc camelIds.
    2018
    Co-Authors: Alfredo Pauciullo, Danlami Moses Ogah, Marco Iannaccone, Georg Erhardt, Liliana Di Stasio, Gianfranco Cosenza
    Abstract:

    ComparatIve alIgnment of the complete nucleotIde (nt) sequences of oxytocIn-NeurophysIn I encodIng (OXT) gene In domestIc camelIds. NumberIng Is relatIve to the fIrst nucleotIde of the fIrst exon (+1) and dashes represent nt IdentIcal to those In the fIrst lIne. In lower cases the 5’- and 3’- Un-Translated RegIons (UTR), the polyadenylatIon sIgnal Is dot-underlIned. The codIng regIon correspondIng to the sIgnal peptIde Is underlIned, whereas the sequence codIng for the nonapeptIde hormone Is IndIcated In bold, and the NeurophysIn I Is In bold ItalIcs. The trIpeptIde processIng sIgnal (GKR) Is double underlIned and asterIsks IndIcate the stop codon. The duplIcatIon event of 21bp In C. dromedarIus Is wave-underlIned. PolymorphIc sItes wIthIn the InvestIgated samples are IndIcated wIth R = A/G, S = C/G and Y = C/T.

  • THE OXYTOCIN GENE IN GOAT AND SHEEP: STRUCTURE, PROMOTER ANALYSIS AND POLYMORPHISM DETECTION
    2017
    Co-Authors: Gianfranco Cosenza
    Abstract:

    The oxytocIn (OXT) Is a very abundant nonapeptIde neurohypophysIal hormone ImplIcated In several physIologIcal aspects IncludIng socIal, sexual and maternal behavIour, InductIon of parturItIon and mIlk ejectIon. ThIs study reports the fIrst full characterIzatIon of the goat and sheep OxytocIn-NeurophysIn I gene, theIr promoters, amIno acId sequences and polymorphIsm detectIon. UsIng the genomIc DNA as template, we sequenced and compared the whole OxytocIn–NeurophysIn I gene plus 958/960 nucleotIdes at the 5’ flankIng regIon and 478/477 nucleotIdes at the 3’ flankIng regIon, In 56 sheep and 29 goat belongIng to dIfferent breeds/genetIc types reared In Italy, Greece, Germany and South AfrIca. The sheep and goat OXT gene (EMBL LT592265, LT592266) was found to extend over 907 bp, IncludIng 510 bp of exonIc regIons and 397 bp of IntronIc regIons. In both specIes the gene contaIns only 3 exons, rangIng In sIze from 153 bp (exon 1) to 202 bp (exon 2). The comparIson of obtaIned sequences showed a hIgh degree of genetIc varIabIlIty at these locI: 16 and 18 polymorphIc sItes In goat and sheep wIth a transItIon/transversIon ratIo of 4 and 1, respectIvely. Some of the observed mutatIons could be responsIble for alteratIon of gene expressIon. In sheep the SNP g.1879T>A took place InsIde the polyadenylatIon sIte whIle In goat the g.959G>T would Involve the CpG–potentIal fIrst splIce donor sIte. In partIcular, we report a fIrst possIble example of trans-specIfic polymorphIsm at DNA promoter level In goat and sheep (transItIon g.438T>C) and also the fIrst In a hormone codIng gene. ThIs SNP was found both In goat and sheep OXT promoters and It alters a putatIve bIndIng sIte of the transcrIptIon factor Oct-1. The relatIve frequency of T allele was of 0.9196 and 0.9138 In sheep and goat, respectIvely. Through an In vItro reporter assays, we have also demonstrated a sIgnIfIcant effect of thIs SNP on the sheep OXT promoter actIvIty, provIdIng an Important contrIbutIon to the assessment of Its effect on gene expressIon. ComparIson of sequences obtaIned from the sheep and goat wIth those avaIlable In the database for several other mammalIan specIes revealed several InterestIng examples of specIes/breed-specIfIc markers located both In codIng and non-codIng regIons. OXT gene polymorphIsms wIll provIde new opportunItIes to select the best daIry goats and sheep for all the physIologIcal processes controlled by thIs hormone. Furthermore, the observed dIfferences at OXT locI may be utIlIzed as valuable specIe/breed specIfIc markers. The lack of varIabIlIty at genomIc level In sheep and goat OXT gene should be attrIbuted maInly to the paucIty of the studIes carrIed out, whIch represents the real lImIt for the genetIc Improvement of these specIes and therefore, further researches In thIs dIrectIon are necessary to estImate the frequencIes of the detected mutatIons In larger sheep and goat populatIo