Preliminary report on the microvertebrate faunal remains from the late triassic locality at Krasiejów, SW Poland

Fossil vertebrate remains from the Keuper unit in the vicinity of the village of Krasiejów have been analyzed for almost two decades. However, the main goal of these works was focused mainly on large vertebrates. Here the authors present the first description of microvertebrate fossils from that site. The collection of around 5,000 specimens is mainly comprised of teeth and scales. The most numerous remains belong to osteichthyans: dipnoans (Ptychoceratodus and cf. Arganodus), palaeoniscids, semionotids, redfieldiids and chondrichthyans, such as Lonchidion sp., which is the first indisputable record of that genus in the Upper Triassic of Poland and the first shark at the Krasiejów locality. Tetrapod fossils consist of temnospondyl amphibians, rhynchocephalian lepidosauromorphs and archosauromorphs. Among them, temnospondyl amphibian remains are the most numerous and are represented mostly by Metoposaurus. However, on the basis of diversity in tooth morphotypes, the occurrence of other taxa cannot be excluded. Rhynchocephalians are composed of 7 fragmentary jaw morphotypes with dentition, which could indicate high taxonomic diversity (cf. Planocephalosaurus, cf. Diphydontosaurus and cf. Clevosaurus). The most varied fossil group was assigned to the archosauromorphs. The authors can distinguish at least 19 teeth morphotypes, which show similarities to the dentition of: protorosaurians (cf. Tanystropheidae), pseudosuchians (cf. Protecovasaurus, cf. Revueltosaurus), early crocodylomorphs and basal sauropodomorph dinosaurs. The first occurrence of a theropod dinosaur and cynodonts at the Krasiejów locality is also recorded. However, their remains are very rare. These new records show a high taxonomic diversity at the Krasiejów locality that contributes to our deeper understanding of Late Triassic ecosystem of Poland.publishersversionpublishe

XXI Konferencja Naukowa Sekcji Paleontologicznej Polskiego Towarzystwa Geologicznego. Żarki-Letnisko, 13–16 września 2010. Materiały Konferencyjne.

Spis treści Streszczenia referatów i posterów ADAM BODZIOCH I MONIKA KOWAL-LINKA: Podstawowe cechy diagenetyczne wybranych kości płazów i gadów triasowych z nagromadzenia w Krasiejowie. ....................................................................................................5 ADAM BODZIOCH, KAMIL GĄDEK, MAŁGORZATA PĘCKA I EDWARD ZŁOTKOWSKI: Paleohistologia wybranych kości płazów i gadów triasowych z nagromadzenia w Krasiejowie. ................................................................7 EWELINA BORCUCH: Paleoekologia wczesnego franu w kamieniołomie Kostomłoty-Mogiłki (Góry Świętokrzyskie). ................................................................................................................................................9 TOMASZ BORSZCZ: Akumulacje jeżowców w górnej kredzie (turon) południowej Polski. ....................................11 TOMASZ BORSZCZ: Pancerze jeżowców jako podłoże dla epibiontów – przykład z górnej kredy Polski. .............13 ALINA CHRZĄSTEK: Późnokredowe skamieniałości śladowe niecki północnosudeckiej i rowu Nysy. ..................14 EDWARD CHWIEDUK I BOGUMIŁ NOWAK: Zespoły koralowcowe i fauna im towarzysząca w warstwach górnopaleozoicznych odsłonięcia Kruseryggen (pd. Spitsbergen). ................................................................16 MAREK DEC: Ryby kostnoszkieletowe „piaskowców plakodermowych” dewonu dolnego. ..................................18 PAWEŁ FILIPIAK: Analiza palinologiczna osadów górnego dewonu Polski południowej. .....................................19 MICHAŁ GINTER I VACHIK HAIRAPETIAN: Chrzęstnoszkieletowe z górnego dewonu Armenii. .............................21 PAULINA GÓRECKA: Ichtiofauna wapienia muszlowego z Zyglina. .......................................................................22 KATARZYNA JANISZEWSKA I JAROSŁAW STOLARSKI: Korony głębin – o strukturze szkieletu koralowców Micrabaciidae. ................................................................................................................................................23 AGATA JARZYNKA: Flora kopalna glinek grojeckich (środkowa jura). ................................................................25 ALEKSANDRA JUROCHNIK: Późnoglacjalna i holoceńska szata roślinna Ziemi Lubuskiej na podstawie wstępnych wyników badań analizy palinologicznej. ........................................................................................................27 ADRIAN KIN: Nowe dane o biostratygrafii i faunie górnego kampanu/dolnego mastrychtu niecki miechowskiej. .........................................................................................................................................................................29 KRYSTIAN KONIECZYŃSKI: Stereom górnojurajskich liliowców z Kujaw (środkowa Polska). .............................31 MONIKA KOWAL-LINKA I ADAM BODZIOCH: Nietypowo wykształcone ichnoskamieniałości Rhizocorallium z dolnego wapienia muszlowego (stanowisko w Żyglinie). ...............................................................................32 RAFAŁ KOWALSKI: Obraz mioceńskiej roślinności na podstawie kopalnych szczątków z klifu wybrzeża Bałtyku okolic Chłapowa. ............................................................................................................................................33 CEZARY KRAWCZYŃSKI: Stan zachowania szczątków Discinisca humphriesiana (Sowerby) z osadów górnego oksfordu Bielaw i Wapienna na Kujawach. ....................................................................................................35 MICHAŁ KROBICKI, DRISS SADKI, JAN GOLONKA, ANNA PLONKA, URSZULA PREDKI I ANNA RUSIN: Budowle małżowe wczesnej jury marokańskiego Atlasu Wysokiego. ............................................................................37 JARMILA KRZYMIŃSKA, MIROSŁAW BŁASZKIEWICZ, GRAŻYNA MIOTK-SZPIGANOWICZ I MAŁGORZATA WITAK: Późnoglacjalne zmiany środowiskowe w świetle analiz biostraty-graficznych osadów jeziornych na Pomorzu. .........................................................................................................................................................38 RAFAŁ LACH: Kelowejskie liliowce (Crinoidea) Litwy. .........................................................................................39 MARCIN MACHALSKI: Ostatnie amonity w czasie i przestrzeni. ............................................................................41 IWONA MACHŁAJEWSKA: Wstepne dane o kolekcji kości ssaków plejstoceńskich ze zbiorów Muzeum Geologii Złóż w Gliwicach. ............................................................................................................................................44 SYLWIA MACHOCKA: Życie na niestabilnym gruncie – zróżnicowanie i ekologia sklerobiontów na konkrecjach hiatusowych z batonu Jury polskiej. ................................................................................................................45 LESZEK MARYNOWSKI: Pożary w zapisie kopalnym. .............................................................................................47 DAWID MAZUREK: Ichnofosylia jako źródło wiedzy o przemianach anatomicznych na etapie wczesnej filogenezy zwierząt tkankowych. .......................................................................................................................................50 JOLANTA MUSZER I JOANNA HAYDUKIEWICZ: Interpretacja paleośrodowiskowa serii Paprotni (Góry Bardzkie) na podstawie tafocenoz i skamieniałości śladowych. .....................................................................................51 KATARZYNA NARKIEWICZ I PIERRE BULTYNCK: Nowe możliwości korelacji konodontowej żywetu górnego w facjach płytkomorskich. ..................................................................................................................................53 DARIUSZ NAST: Szczątki kostne delfinowatych ze środkowego miocenu zapadliska przedkarpackiego. ..............55 GRZEGORZ NIEDŹWIEDZKI I PIOTR SZREK: Skamieniałości terapodomorfów w osadach dewońskich Gór Świętokrzyskich. ..............................................................................................................................................57 DANUTA OLSZEWSKA-NEJBERT I MARCIN BARSKI: Biostratygrafia utworów paleogeńskich na podstawie cyst Dinoflagellata w rejonie Mielnika (wschodnia Polska). .................................................................................58 DANUTA OLSZEWSKA-NEJBERT I EWA ŚWIERCZEWSKA-GŁADYSZ: Gąbki z utworów dolnego mastrychtu w Mielniku (wschodnia Polska) – wstepne dane paleontologiczne i paleoekologiczne. ....................................60 PAWEŁ RACZYŃSKI: Cechsztyńska rafa barierowa na Litwie. ...............................................................................62 PAWEŁ RACZYŃSKI, DAWID BIAŁEK, PRZEMYSŁAW SZTAJNER I DOMINIK ZAWADZKI: Wczesnokambryjskie budowle archeocjatowe w Sudetach. ..............................................................................................................64 MICHAŁ RAKOCIŃSKI I EWELINA BORCUCH: Występowanie muszlowców głowonogowych w górnym franie Jaźwicy (Góry Świętokrzyskie). ......................................................................................................................65 ŁUKASZ RAKOWICZ: Strategie życiowe organizmów epizoicznych na przykładzie fauny z Grzegorzowic (ems górny, Góry Świętokrzyskie). ..........................................................................................................................67 STANISŁAW SKOMPSKI: Paleogeograficzne implikacje występowania mikroproblematyków w utworach górnego syluru. .............................................................................................................................................................69 JOLANTA SMOLEŃ: Biostratygrafia i paleoekologia otwornic w osadach jury środkowej i górnej w wierceniach Darżlubie i Grudziądz (synekliza perybałtycka) – wstepne wyniki badań. ....................................................71 JAROSŁAW STOLARSKI I KATARZYNA JANISZEWSKA: Aragonitowe koralowce kalcytowych mórz. ......................72 BARBARA STUDENCKA, SIERGIEJ POPOW, MAŁGORZATA BIEŃKOWSKA-WASILUK I RADOSŁAW WASILUK: Nietypowa fauna małżów oligoceńskich z formacji menilitowej z okolic Krosna. .........................................74 ANDRZEJ BOCZAROWSKI I DAWID SURMIK: Analiza sposobu życia notozauridów. ..............................................76 DAWID SURMIK I EWELINA BORCUCH: Dewońskie skamieniałości rafowe z osadów polodowcowych kopalni piasku „Maczki-Bór” w Sosnowcu. ................................................................................................................78 DAWID SURMIK I IWONA MACHŁAJEWSKA: Historyczna kolekcja szczątków triasowych gadów morskich ze zbiorów Muzeum Geologii Złóż w Gliwicach. ................................................................................................80 PIOTR SZREK I AGNIESZKA JASZCZUK: Późnodewońskie kręgowce Gór Świętokrzyskich – aktorzy pierwszego i drugiego planu w zapisie kopalnym. ...............................................................................................................82 MARLENA ŚWIŁO: Znaleziska szczątków rekinów z Lipia Śląskiego. .....................................................................84 ZUZANNA WAWRZYNIAK: Późnotriasowe kutykule z Lipia Śląskiego k. Lublińca. ...............................................85 TATIANA WORONCOWA-MARCINOWSKA: Przedstawiciele Balviinae Korn (Ammonoidea) z najwyższego famenu Gór Świętokrzyskich. .......................................................................................................................................86 KRYSTIAN WÓJCIK: Otwornice i glony wapienne z famenu Gór Świętokrzyskich. ................................................88 TOMASZ WRZOŁEK: Koralowce czteropromienne dewonu świętokrzyskiego – historia biocenoz. .......................90 ANNA ŻYLIŃSKA I ADRIAN KIN: Strategia obrony u Strenuella polonica Czarnocki (Ellipsocephalidae, Trilobita) z kambru Gór Świętokrzyskich. .......................................................................................................................91 DAGMARA ŻYŁA: Owady w triasowych biocenozach terenu Polski. .....................................................................93 Wycieczki terenowe Wycieczka I. Śląskie stanowiska paleontologiczne ze szczątkami kręgowców triasowych: WALDEMAR BARDZIŃSKI I DAWID SURMIK: Występowanie kręgowców środkowotriasowych koło Żyglina (punkt 1). .........................................................................................................................................................95 WALDEMAR BARDZIŃSKI: Środkowotriasowe bruki muszlowe i muszlowce okolic Żyglina (punkt 1). ..............100 GRZEGORZ NIEDŹWIEDZKI I TOMASZ SULEJ: Lisowice – cegielnia Lipie Śląskie (punkt 2). ...............................102 ADAM BODZIOCH, DOROTA KONIETZKO-MEIER I ELENA JAGT-YAZYKOVA: Stanowisko dokumentacyjne „Trias” w Krasiejowie (punkt 3). ...............................................................................................................................107 Wycieczka II. Paleozoik Zagłębia Dąbrowskiego: TOMASZ WRZOŁEK: Odsłonięcie wapieni dewonu w Dziewkach koło Siewierza (punkt 1). ...............................112 WOJCIECH KRAWCZYŃSKI: Piaskowce z Gołonoga (punkt 2). ............................................................................116 ANDRZEJ J. WÓJCIK I SEBASTIAN KOSAKOWSKI: Kopalnia Ćwiczebna Muzeum Miejskiego „Sztygarka” reliktem górnictwa węgla kamiennego w Dąbrowie Górniczej (punkt 3). ..................................................................121Materiały konferencyjne XXI Konferencji Naukowej Sekcji Paleontologicznej Polskiego Towarzystwa Geologicznego (Żarki-Letnisko, 13–16 września 2010) zawierające streszczenia referatów i posterów oraz przewodnik pokonferencyjnych wycieczek terenowych

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.This investigation was supported by the Instituto de Salud Carlos III and the Fundacion Vasca de Innovacion e Investigacion Sanitarias (funds to ES)

Effects of Deletion of Macrophage ABCA7 on Lipid Metabolism and the Development of Atherosclerosis in the Presence and Absence of ABCA1

ABCA7, a close relative of ABCA1 which facilitates cholesterol efflux to lipid-poor apoproteins, has been implicated in macrophage lipid efflux and clearance of apoptotic cells in in vitro studies. In the current study, we investigated the in vivo effects of macrophage ABCA7 deficiency on lipid metabolism and atherosclerosis. Chimeras with dysfunctional ABCA7 in macrophages and other blood cells were generated by transplantation of bone marrow from ABCA7 knockout (KO) mice into irradiated low-density lipoprotein receptor (LDLr) KO mice. Unexpectedly, macrophage ABCA7 deficiency did not significantly affect atherosclerosis susceptibility of LDLr KO mice after 10 weeks Western-type diet feeding. However, ABCA7 deficiency was associated with 2-fold (p<0.05) higher macrophage ABCA1 mRNA expression levels. Combined disruption of ABCA1 and ABCA7 in bone-marrow-derived cells increased atherosclerotic lesion development (1.5-fold (p>0.05) as compared to wild type transplanted mice. However, single deletion of ABCA1 had a similar effect (1.8-fold, p<0.05). Macrophage foam cell accumulation in the peritoneal cavity was reduced in ABCA1/ABCA7 dKO transplanted animals as compared to single ABCA1 KO transplanted mice, which was associated with increased ABCG1 expression. Interestingly, spleens of ABCA1/ABCA7 double KO transplanted mice were significantly larger as compared to the other 3 groups and showed massive macrophage lipid accumulation, a reduction in CD3+ T-cells, and increased expression of key regulators of erythropoiesis. In conclusion, deletion of ABCA7 in bone marrow-derived cells does not affect atherogenesis in the arterial wall neither in the absence or presence of ABCA1. Interestingly, combined deletion of bone marrow ABCA1 and ABCA7 causes severe splenomegaly associated with cellular lipid accumulation, a reduction in splenic CD3+ T cells, and induced markers of erythropoeisis. Our data indicate that ABCA7 may play a role in T cell proliferation and erythropoeisis in spleen

Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis

<p>Abstract</p> <p>Background</p> <p>Plasma level of high-density lipoprotein-cholesterol (HDL-C), a heritable trait, is an important determinant of susceptibility to atherosclerosis. Non-synonymous and regulatory single nucleotide polymorphisms (SNPs) in genes implicated in HDL-C synthesis and metabolism are likely to influence plasma HDL-C, apolipoprotein A-I (apo A-I) levels and severity of coronary atherosclerosis.</p> <p>Methods</p> <p>We genotyped 784 unrelated Caucasian individuals from two sets of populations (Lipoprotein and Coronary Atherosclerosis Study- LCAS, N = 333 and TexGen, N = 451) for 94 SNPs in 42 candidate genes by 5' nuclease assays. We tested the distribution of the phenotypes by the Shapiro-Wilk normality test. We used Box-Cox regression to analyze associations of the non-normally distributed phenotypes (plasma HDL-C and apo A-I levels) with the genotypes. We included sex, age, body mass index (BMI), diabetes mellitus (DM), and cigarette smoking as covariates. We calculated the q values as indicators of the false positive discovery rate (FDR).</p> <p>Results</p> <p>Plasma HDL-C levels were associated with sex (higher in females), BMI (inversely), smoking (lower in smokers), DM (lower in those with DM) and SNPs in <it>APOA5, APOC2</it>, <it>CETP, LPL </it>and <it>LIPC </it>(each q ≤0.01). Likewise, plasma apo A-I levels, available in the LCAS subset, were associated with SNPs in <it>CETP</it>, <it>APOA5</it>, and <it>APOC2 </it>as well as with BMI, sex and age (all q values ≤0.03). The <it>APOA5 </it>variant S19W was also associated with minimal lumen diameter (MLD) of coronary atherosclerotic lesions, a quantitative index of severity of coronary atherosclerosis (q = 0.018); mean number of coronary artery occlusions (p = 0.034) at the baseline and progression of coronary atherosclerosis, as indicated by the loss of MLD.</p> <p>Conclusion</p> <p>Putatively functional variants of <it>APOA2</it>, <it>APOA5, APOC2</it>, <it>CETP, LPL</it>, <it>LIPC </it>and <it>SOAT2 </it>are independent genetic determinants of plasma HDL-C levels. The non-synonymous S19W SNP in <it>APOA5 </it>is also an independent determinant of plasma apo A-I level, severity of coronary atherosclerosis and its progression.</p

Transbilayer Phospholipid Movements in ABCA1-Deficient Cells

Tangier disease is an inherited disorder that results in a deficiency in circulating levels of HDL. Although the disease is known to be caused by mutations in the ABCA1 gene, the mechanism by which lesions in the ABCA1 ATPase effect this outcome is not known. The inability of ABCA1 knockout mice (ABCA1−/−) to load cholesterol and phospholipids onto apoA1 led to a proposal that ABCA1 mediates the transbilayer externalization of phospholipids, an activity integral not only to the formation of HDL particles but also to another, distinct process: the recognition and clearance of apoptotic cells by macrophages. Expression of phosphatidylserine (PS) on the surface of both macrophages and their apoptotic targets is required for efficient engulfment of the apoptotic cells, and it has been proposed that ABCA1 is required for transbilayer externalization of PS to the surface of both cell types. To determine whether ABCA1 is responsible for any of the catalytic activities known to control transbilayer phospholipid movements, these activities were measured in cells from ABCA1−/− mice and from Tangier individuals as well as ABCA1-expressing HeLa cells. Phospholipid movements in either normal or apoptotic lymphocytes or in macrophages were not inhibited when cells from knockout and wildtype mice or immortalized cells from Tangier individuals vs normal individuals were compared. Exposure of PS on the surface of normal thymocytes, apoptotic thymocytes and elicited peritoneal macrophages from wildtype and knockout mice or B lymphocytes from normal and Tangier individuals, as measured by annexin V binding, was also unchanged. No evidence was found of ABCA1-stimulated active PS export, and spontaneous PS movement to the outer leaflet in the presence or absence of apoA1 was unaffected by the presence or absence of ABCA1. Normal or Tangier B lymphocytes and macrophages were also identical in their ability to serve as targets or phagocytes, respectively, in apoptotic cell clearance assays. No evidence was found to support the suggestion that ABCA1 is involved in transport to the macrophage cell surface of annexins I and II, known to enhance phagocytosis of apoptotic cells. These results show that mutations in ABCA1 do not measurably reduce the rate of transbilayer movements of phospholipids in either the engulfing macrophage or the apoptotic target, thus discounting catalysis of transbilayer movements of phospholipids as the mechanism by which ABCA1 facilitates loading of phospholipids and cholesterol onto apoA1