Genetic heterogeneity in XP studied by cell fusion and UV-induced unscheduled DNA synthesis (UDS). Top: A schematic representation of the micrograph presented.

Slides:

Advertisements

Similar presentations

Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts

Advertisements

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

One kindred with two GGM patents

Genomic organization of the human cathepsin K gene

Contrasting hypotheses of genomic imprinting in cancer

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.

Pathways to genetic instability

Patterns of genetic change in neuroblastomas

Percentile lines for the relationship between insulin sensitivity (SI) and the first-phase insulin response (AIRglucose) based on data from 93 normal subjects.45.

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),

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

Illustration of the origin of tubular cysts

Light micrographs comparing pycnodysostosis and normal bone

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

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

A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.

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

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

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.

Progressive myopathy in a patient with type IIIa glycogen storage disease. The patient has a debrancher deficiency in both liver and muscle (subtype IIIa).

A representation of the DNA damage-induced cell cycle checkpoint pathway in mammalian cells. DNA damage results in accumulation of the p53 protein. Accumulation.

Molecular consequences of chromosomal rearrangements that modify the AML1/CBFβ transcription factor complex, the most frequent target of reciprocal translocations.

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.

Relation between the fractional catabolic rate (FCR) for plasma LDL and the number of LDL receptors on fibroblasts in patients with FH. The values for.

Model accounting for the mechanisms linking epipodophyllotoxin therapy, MLL fusion proteins, cell cycle progression, and the relaxation of cell cycle checkpoints,

Contrasting hypotheses of genomic imprinting in cancer

Fluorescence in situ hybridization (FISH). Figs

A comparison of acute insulin responses to 5 g i. v

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.

RhoGEFs activate a Rho protein GTPase by catalyzing the exchange of GDP for GTP. A variety of stimuli lead to the activation of Rho protein family members.

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.

Typical skin abnormalities in an adolescent XP patient (complementation group XP-C). Top: Pigmentation abnormalities; freckling and dryness and atrophy.

Depiction of meiotic crossing over and linkage analysis

Anteroposterior radiographs of right tibia and fibula of case 2 at 2 years of age and left tibia and fibula of case 3 at age 6 years. Features of osteopetrosis.

Newborn SF-1 knockout mice lack adrenal glands and gonads and have female internal genitalia. SF-1 knockout pups and wild-type littermates were sacrificed,

Localization of WT1 mRNA expression in the developing kidney

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;

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

The renin-angiotensin-aldosterone system

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.

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).

Young female with OCA1B. The hair was white at birth

Overview of the TGF-β signaling pathway

Schematic representation of p53 molecule

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.

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.

The PBDs can be caused by defects in peroxisomal matrix protein import or peroxisome membrane synthesis. Immunofluorescence microscopy shows that human.

DNA analysis on patients with STS deficiency

Presentation transcript:

Genetic heterogeneity in XP studied by cell fusion and UV-induced unscheduled DNA synthesis (UDS). Top: A schematic representation of the micrograph presented at the bottom. Cultured fibroblasts from two unrelated patients (A and B) were fused, exposed to UV light, pulse labeled with [3 H]thymidine, fixed, and autoradiographed to visualize DNA repair synthesis (UDS). Cells of patient A are marked with engulfed large latex beads and those of patient B with small beads. This marking enables the identification of the fused cells containing nuclei of both patients (heterokaryons). If the patients are mutated in different DNA repair genes (gene A and gene B), the heterokaryon will be able to perform normal levels of DNA repair synthesis (UDS is visualized by wild-type levels of autoradiographic grains in the emulsion above the nuclei). In this case patients A and B belong to two different complementation groups. (From the Department of Cell Biology and Genetics, Erasmus University, Rotterdam, W. Vermeulen and D. Bootsma.) Source: Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy *This text is a complete revision of Chapter 148, Xeroderma Pigmentosum and Cockayne Syndrome, in the 7th edition of Metabolic and Molecular Bases of Inherited Diseases. Part of this chapter is an updated version of Hoeijmakers JHJ: Human nucleotide excision repair syndromes: Molecular clues to unexpected intricacies, Eur J Cancer 30A(13):1912, 1994; used with permission from Elsevier Science, Ltd., The Boulevard, Lanfordlane, Kidlington OX5 1GB, UK. , 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: http://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch28fg7.png&sec=62665370&BookID=971&ChapterSecID=62665315&imagename= Accessed: November 11, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved