by Wen-feng Xu, Zhi-wei Xie, Dominic W. Chung, and Earl W. Davie

Slides:



Advertisements
Similar presentations
WT#3#5#7#9#11#14#15#20#25#30 35S::JAZ13 Root length ratio * * * * * * * * * * Figure S2. Overexpression of native (untagged)
Advertisements

Figure 1. RT–PCR identification of an abnormal transcript of the PTPN6 gene in normal and leukemic bone marrow cells and cell line. (a) Diagrammatic representation.
Volume 88, Issue 5, Pages (March 1997)
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A by Richard D. Bagnall, Naushin Waseem, Peter M.
by Mark T. Boyd, Brian Foley, and Isadore Brodsky
by Sergei Merkulov, Wan-Ming Zhang, Anton A. Komar, Alvin H
by Nancy D. Borson, Martha Q. Lacy, and Peter J. Wettstein
Alternative Splicing of a Novel Glycophorin Allele GPHe(GL) Generates Two Protein Isoforms in the Human Erythrocyte Membrane by Cheng-Han Huang, Olga O.
Follicular lymphoma with a novel t(14;18) breakpoint involving the immunoglobulin heavy chain switch mu region indicates an origin from germinal center.
A spliceosomal intron of mitochondrial DNA origin
Leukemic Cellular Retinoic Acid Resistance and Missense Mutations in the PML-RAR Fusion Gene After Relapse of Acute Promyelocytic Leukemia From Treatment.
by Takashi Kasukabe, Junko Okabe-Kado, and Yoshio Honma
by Cheng-Han Huang, Ying Chen, Marion E. Reid, and Christine Seidl
The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype.
High BCL6 expression predicts better prognosis, independent of BCL6 translocation status, translocation partner, or BCL6-deregulating mutations, in gastric.
Regulation of expression of murine transferrin receptor 2
by Jean-Michel Cayuela, Betty Gardie, and François Sigaux
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)‏ by Achille Iolascon, Maria d'Apolito, Veronica.
Truncation of Glycoprotein (GP) IIIa (▵ ) Prevents Complex Formation With GPIIb: Novel Mutation in Exon 11 of GPIIIa Associated With Thrombasthenia.
by David M. Weinstock, Beth Elliott, and Maria Jasin
Expression and Localization of Tissue Kallikrein mRNAs in Human Epidermis and Appendages  Nahoko Komatsu, MD, Minoru Takata, Norio Otsuki, Tadashi Toyama,
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)  Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,
The (4;11)(q21;p15) Translocation Fuses the NUP98 andRAP1GDS1 Genes and Is Recurrent in T-Cell Acute Lymphocytic Leukemia by Damian J. Hussey, Mario Nicola,
The Rhesus Macaque as an Animal Model for Hemophilia B Gene Therapy
Hou-Sung Jung, Gregory J. Tsongalis, Joel A. Lefferts 
Undifferentiated Small Round Cell Sarcomas with Rare EWS Gene Fusions
by Kwang-Hyun Baek, Michelle A
Deletion-based mechanisms of Notch1 activation in T-ALL: key roles for RAG recombinase and a conserved internal translational start site in Notch1 by Todd.
Erythropoietin gene from a teleost fish, Fugu rubripes
Volume 84, Issue 3, Pages (February 1996)
Psoriasis Upregulated Phorbolin-1 Shares Structural but not Functional Similarity to the mRNA-Editing Protein Apobec-1  Peder Madsen, Julio E. Celis,
A Novel Gene Causing a Mendelian Audiogenic Mouse Epilepsy
Volume 10, Issue 2, Pages (February 1999)
Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency 
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease  Alberto Auricchio, Paola.
Volume 19, Issue 5, Pages (November 1997)
Volume 88, Issue 5, Pages (March 1997)
Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family  Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito 
Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2  Biao.
A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function.
Rosemary C Dietrich, Robert Incorvaia, Richard A Padgett 
Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth- Hormone Insensitivity  Louise A. Metherell, Scott A. Akker, Patricia.
Hiroaki Matsunami, Linda B Buck  Cell 
A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease  Carolyn Tysoe, Joanne Whittaker, John.
Qiong A. Liu, Michael O. Hengartner  Current Biology 
Michael F. Naso, Bailin Liang, C
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa  Abdul Noor, Christian Windpassinger,
A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.
Sex-Linked period Genes in the Silkmoth, Antheraea pernyi
The mlenapts RNA Helicase Mutation in Drosophila Results in a Splicing Catastrophe of the para Na+ Channel Transcript in a Region of RNA Editing  Robert.
APOE Gene Targeting (A) Schematic representation of the endogenous APOE locus, the gene targeting vector and the targeted APOE locus. The exons of the.
Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development  K. Kosaki,
by Sreenivasulu Chintala, Jian Tan, Rashi Gautam, Michael E
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein 
Volume 57, Issue 3, Pages (March 2000)
Volume 16, Issue 4, Pages (April 2002)
(A) yellow cDNA comparison among wild-type and ch mutants
Identification of Skn-1n, a Splice Variant Induced by High Calcium Concentration and Specifically Expressed in Normal Human Keratinocytes  Koji Nakajima,
Genomic structure of LTBP-4 around the 3rd 8-Cys repeat.
Expression of multiple forms of MEL1 gene products.
Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria)  Ken L. Chambliss, Debra.
Mutation of the Ca2+ Channel β Subunit Gene Cchb4 Is Associated with Ataxia and Seizures in the Lethargic (lh) Mouse  Daniel L Burgess, Julie M Jones,
In vitro interaction domain mapping of pVHL and AUF1.
by Honglin Chen, Paul Smith, Richard F. Ambinder, and S. Diane Hayward
Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia  Gaëlle Pennarun, Estelle.
Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene  Jerry Vockley, Peter K. Rogan,
Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations  Alex W. Monreal,
A, Schematic diagram of identified splice variants of PD-L1.
Characterization of Human FAST-1, a TGFβ and Activin Signal Transducer
Presentation transcript:

by Wen-feng Xu, Zhi-wei Xie, Dominic W. Chung, and Earl W. Davie A Novel Human Actin-Binding Protein Homologue That Binds to Platelet Glycoprotein Ib by Wen-feng Xu, Zhi-wei Xie, Dominic W. Chung, and Earl W. Davie Blood Volume 92(4):1268-1276 August 15, 1998 ©1998 by American Society of Hematology

cDNA clones that span the full-length actin-binding protein homologue sequence. cDNA clones that span the full-length actin-binding protein homologue sequence. Clone K1.3 was isolated by the yeast two-hybrid screening, clones 1-4 were obtained by rapid amplification of 5′ cDNA ends (5′ RACE), and clones 5 and 6 were the cDNA clones isolated from a human placenta library. The diagram shows an alignment of the ABP cDNA with characteristic functional domains of the ABP subunit. The asterisk indicates the position of the 24 amino acid Hinge I insertion in ABP-278. Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Comparison of ABP-278 and ABP-276 amino terminal 248 amino acids with the actin-binding domains of other ABPs. Amino acids conserved in five or more members of the group are highlighted in bold. Comparison of ABP-278 and ABP-276 amino terminal 248 amino acids with the actin-binding domains of other ABPs. Amino acids conserved in five or more members of the group are highlighted in bold. The group of ABPs includes: human β-spectrin (HSpec),34 Drosophilaspectrin (DrSpec),35 human dystrophin (HDys),37 chicken dystrophin (CDys),36 chicken -actinin (CAct),32 Dictyostelium -actinin (DAct),33 Dictyostelium gelation factor (DGF),31 human ABP-280,17chicken filamin protein (MCFil),47 and human ABP homologues ABP-276 and ABP-278. Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Alignment of the 24 internal repeats in the ABP-276 and ABP-278 backbone. Alignment of the 24 internal repeats in the ABP-276 and ABP-278 backbone. Alignment of amino acid residues 249-2602 of ABP-278 are shown. The 24 amino acid Hinge I sequence of ABP-278 was inserted between repeats 15 and 16; a 34 amino acid Hinge II sequence of both ABP-276 and ABP-278 was inserted between repeats 23 and 24. A consensus sequence for the repeating unit in ABP-278, derived from residues common to at least 10 of the repeats is listed at the bottom, together with a similar consensus sequence from ABP-28017 and chicken filamin (MCFil).47 Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Alternative splicing of the Hinge I region. Alternative splicing of the Hinge I region. (A) Schematic representation of the genomic structure encoding the Hinge I region and the PCR products amplified with specific primers P3, P4, P5, and P6. The genomic sequences encoding the Hinge I region and partial sequences of adjacent repeats 15 and 16 are boxed. Intron sequences are represented by dashed lines. The PCR primers specific for ABP-278 (P3, P4, P5, and P6) are labeled. The position of exon-intron junctions are indicated by vertical arrows and numbered. (B) Diagram of the formation of ABP-278 and its isoform ABP-276 by alternative RNA splicing. (C) Partial sequences of exon-intron junctions as numbered in (A). Splice juntions are indicated by slash. The consensus donor (gt) and acceptor (ag) dinucleotides are underlined. Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology

Tissue distribution of ABP-276 and ABP-278 by RT-PCR. Tissue distribution of ABP-276 and ABP-278 by RT-PCR. PCR products, amplified with primers P3 and P4 using various marathon cDNAs (Clontech) as templates, were fractionated on 1.5% agarose gel. The upper band (349 bp) represents the PCR products of ABP-278, while the lower band (277 bp) represents the PCR products of ABP-276. The difference in size is due to the presence and absence of the 72 bp exon sequence encoding the 24 amino acid Hinge I region. The PCR amplification of ABP-280 (P9 and P10) and G3PDH (P7 and P8) sequences were used as controls. Wen-feng Xu et al. Blood 1998;92:1268-1276 ©1998 by American Society of Hematology