Structural organization of the α1(VII) polypeptide of type VII collagen, as deduced by molecular cDNA cloning, and the distribution of COL7A1 mutations.

Slides:

Advertisements

Similar presentations

Copyright © 2016 McGraw-Hill Education. All rights reserved.

Advertisements

A: Population frequency histogram of urinary debrisoquine/4-hydroxydebrisoquine ratios after debrisoquine administration to 258 individuals in a healthy.

Genomic organization of the human cathepsin K gene

Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting.

Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting.

A, Diagnosis of clinical severity (mild, moderate, severe) of hemophilia is based on in vitro coagulant activity as shown. B, Distribution of severe and.

Spectrum of different types of human gene mutations logged in Human Gene Mutation Database as of September 13, 1998 ( Source: The.

Physical map of a human chromosome

Reverse-dot ASO analysis for various point mutations causing cystic fibrosis. For each mutation, the PCR product is hybridized to an ASO dot on the left.

IX; formation of sphingolipids, sphingosine is synthesised from L-serine and palmitoyl-CoA. Source: Serine deficiency disorders, The Online Metabolic and.

Proposed model for the structure of ABC1 within the plasma membrane (modified from reference202 ). The two symmetric halves consisting of six membrane-spanning.

Illustration of the origin of tubular cysts

Structure of the A-subunit gene and identified mutations

The lymphocyte markers that distinguish the various stages of B-cell differentiation are shown. Markers that are expressed on the cell surface are indicated.

Schematic representation of the DTDST protein

Radiographic appearance of intracranial meningioma in NF2

YAC and BAC cloning systems

The PKD1 and PKD2 gene products are integral transmembrane proteins

Distribution of CpG dinucleotide in the human genome and differences in methylation patterns between normal and tumor cells. In the majority of the mammalian.

Prototypical eukaryotic gene

Crystal structure of human short/branched chain acyl-CoA dehydrogenase (PDB file 2JIF). A homotetramer with bound butyryl-Co as substrate is represented.

Effect of chenodeoxycholic acid feeding on the bilirubin levels of a 10-year-old boy with 3β-hydroxy-Δ5-oxidoreductase/isomerase deficiency. (From Setchell.

Aggregation-mediated passive sorting of secretory and membrane proteins during the biogenesis of a secretory granule in the TGN. (1) The luminal contents.

Urinary excretion (mg/h) of tryptophan derivatives following administration of oral L-tryptophan (about 70 mg per kilogram body weight) administered to.

Schematic drawing of the human X chromosome and physical map the Xp interval carrying the ND gene. A 640-kb yeast artificial chromosome (YAC) clone was.

Free energy folding landscape for a hypothetical protein

Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.

Model depicting the cycling of REP

Basal and peak serum thyrotropin (TSH) concentrations following intravenous administration of 500 μg thyrotropin-releasing factor (TRF) to subjects with.

Two children with LPI. The pictures were taken at the time of diagnosis. A, Child 12 years old. B, Child 6 years old. Note the prominent abdomen, hypotrophic.

Evolution of the ubiquitous α-, β-, and γ-crystallins and their structure. Details are described in the text. The α-crystallins are related to heat-shock.

Depiction of meiotic crossing over and linkage analysis

Localization of WT1 mRNA expression in the developing kidney

Genetic markers and their detection

Mechanism of NO synthesis

Various strategies for producing transgenic and mutant mice

A comparison of normal cardiac anatomy (A) and the pathology of hypertrophic cardiomyopathy (B). Hypertrophic cardiomyopathy causes cardiomegaly (570 g;

Amino acid sequence and tentative structure for human prepro factor IX

Structure and mutation spectrum of BRCA1

Orofacial dyskinesia in a patient with Huntington's disease

OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or.

Mechanism of NO synthesis

Insulin secretion rates during graded intravenous glucose infusions administered to 6 MODY-2 subjects with glucokinase (GCK) mutations and 6 control subjects.

Photosensitive skin lesions on the face of a child with C4 deficiency

Expression of mutant human P5C dehydrogenase alleles in yeast

Karyotype of glioblastoma

Recovery of E1 activity in E1 variants carrying type IA MSUD mutations as a function of increasing TMAO concentrations. Y368C-α (▪), F364C-α (•), and Y393N-α.

Hydrolysis of membrane-associated ceramide by acid ceramidase in the presence of saposins and bis(monoacylglycero)phosphate (BMP) in the acidic lysosomal.

MRI contrast-enhancement and progression of X-ALD

Key structural elements of p53 DNA binding

Electrophoregram profiles showing the 35delG mutation of CX26 (GJB2) in an individual with recessively inherited hearing loss, and in his heterozygous.

YAC and BAC cloning systems

Corneal opacity in a heterozygote observed by slit-lamp microscopy

FISH of glioblastoma. This interphase nucleus from a glioblastoma contains three chromosome 7 centromere signals (dark) and one centromere 10 signal (light).

A model of the protein C activation complex

Young female with OCA1B. The hair was white at birth

Overview of the TGF-β signaling pathway

Schematic representation of p53 molecule

Structural features of the p53 gene and its encoded protein

The effects of apo E alleles on various lipoprotein parameters

Hepatic glucose production as a function of fasting plasma glucose levels. These studies involved the same individuals who were studied in Fig

Basic algorithm for cancer risk assessment that employs gene testing.

Schematic working model of the hepatic microsomal glucose-6-phosphatase system. ER = endoplasmic reticulum. This model is not meant to represent the actual.

Detection of XIST RNA in interphase cells from a normal male, a normal female, and a 49,XXXXX female by RNA fluorescence in situ hybridization. Male.

Structure and mutation spectrum of BRCA2

Composite megalosaccharide proposed for blood group substance

Complete chemical structures of the neutral glycosphingolipids that accumulate in Fabry disease. A, Globotriaosylceramide, the major accumulated substrate.

Structure of red cell glycophorins. A

DNA analysis on patients with STS deficiency

Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum Jouni Uitto, Leena Pulkkinen,

Presentation transcript:

Structural organization of the α1(VII) polypeptide of type VII collagen, as deduced by molecular cDNA cloning, and the distribution of COL7A1 mutations identified in dystrophic variants of EB along the polypeptide. The pro α1(VII) chain consist of a triple-helical collagenous domain, which contains imperfections or interruptions in the Gly-X-Y repeat sequence, including a 39-amino acid “hinge” region. Noncollagenous amino-terminal NC1 and C-terminal NC2 segments flank the collagenous domain. The NC1 domain consists of submodules with homology to known adhesive proteins, as indicated at the lower-left corner. The NC2 domain has a segment with homology with the Kunitz protease-inhibitor molecule. The arrows indicate the positions of distinct genetic mutations that have been disclosed in the COL7A1 gene. The mutations depicted above the type VII collagen molecule are primarily nonsense mutations or small insertions or deletions that result in frameshift and premature termination codon of translation. These mutations are characteristically associated with recessively inherited variants of dystrophic EB. The mutations shown below the type VII collagen molecule are glycine substitution mutations affecting the collagenous domain of the molecule. The majority of these mutations cause a dominantly inherited dystrophic EB, as a result of dominant negative interference. However, as indicated in the text, some of the glycine substitution mutations are recessive. (Modified from Uitto.111 Used with permission.) Source: Epidermolysis Bullosa: The Disease of the Cutaneous Basement Membrane Zone GenBank accession numbers for genes of the cutaneous basement membrane zone (BMZ): LAMA3 (X85108, X85107); LAMC2 (U43327, U311787–U31201); LAMB3 (L25541, U17744–U17760); ITGB4 (X51841, U66529–U66541); ITGA6 (X59512; AF166335–AF166343); COL7A1 (L02870, L23982); PLEC1 (Z54367, U53204, U53834, U63609–U63610); BPAG1 (L11690, M69225); BPAG2 (U76564–U76604); KRT5 (U05838–U05849); KRT5 (NM000526). , The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: https://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch222fg3.png&sec=62660136&BookID=971&ChapterSecID=62660105&imagename= Accessed: November 11, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved