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Slide 1
Slide 1

... Complex Patterns of Inheritance  The X chromosome carries a variety of genes that are necessary for the development of both females and males.  The Y chromosome mainly has genes that relate to the development of male characteristics. (Testes Determining Factor)  Chromosome inactivation –one X in ...


... naevoid basal cell carcinoma syndrome (NBCS) patients (see below). Mutation and allele loss events in basal cell carcinoma, in NBCS and in sporadic basal cell carcinoma are, so far, in accordance with the two-hit model for neoplasia, as is found in retinoblastoma. ...
Testing hypotheses for the functions of APC family
Testing hypotheses for the functions of APC family

... signaling, it did not substantially alter cell viability, cadherin-based adhesion, spindle morphology, orientation or selection of division plane, as predicted from previous studies. We also tested the hypothesis that truncated APC proteins found in tumors are dominant negative. Two mutant proteins ...
Gene quantification using real-time quantitative PCR
Gene quantification using real-time quantitative PCR

... DNA copy number measurements are important in determining the extent of genomic imbalance that underlies most malignancies. There are numerous techniques available for measuring DNA copy number in tumors; each method has specific advantages and disadvantages. Chromosomal CGH can detect imbalances ac ...
Quantitative genetics of gene expression during fruit fly - EMBL-EBI
Quantitative genetics of gene expression during fruit fly - EMBL-EBI

... In 1865, Gregor Mendel laid the foundations for the systematic study of inheritance with his famous experiments on pea plants. In the 150 years since then, techniques such as linkage mapping and genome-wide association studies have identified genetic variation associated with thousands of different ...
Chapters 5-6
Chapters 5-6

... 2. Each human somatic cell (body cell) contains two copies of each chromosome for a total of 23 pairs of homologous chromosomes. 3. Gametes are the same thing as sex cells, or germ cells. 4. Genetics is the branch of biology that involves the study of how different traits are transmitted from one ge ...
Molecular basis of the inflammatory response to adenovirus
Molecular basis of the inflammatory response to adenovirus

... effector cells to the site of infection.8 These effector cells, which include neutrophils, monocytes/macrophages and natural killer cells in turn, limit the infection directly by killing infected cells or indirectly by secreting antiviral cytokines and chemokines. In addition, the recruitment and ac ...
Educational Item Section Clinical findings in chromosome aberrations in Oncology and Haematology
Educational Item Section Clinical findings in chromosome aberrations in Oncology and Haematology

... distal limbs. Development : • Often most impressive in early childhood. • Tendency to catch-up growth of facial structures. • In some aberrations marked changes with age. ...
Mechanisms and constraints shaping the evolution of body plan
Mechanisms and constraints shaping the evolution of body plan

Direct control of shoot meristem activity by a cytokinin
Direct control of shoot meristem activity by a cytokinin

... decarboxylation of L-lysine to generate cadaverine, a kind of polyamine (http://rapdb.dna.affrc.go.jp/). However, we were not able to detect lysine decarboxylase activity with purified recombinant LOG protein (data not shown). Genes homologous to LOG are found in a wide range of organisms including ...
Tum/RacGAP50C provides a critical link between anaphase
Tum/RacGAP50C provides a critical link between anaphase

... (Shu et al., 1995). These microtubules bundle during anaphase and telophase and remain as the midbody when cell division is completed. Two key proteins necessary for successful cytokinesis have been localised to the central spindle: a kinesin-like protein (ZEN-4 in C. elegans, Pavarotti or Pav- ...
How imprinting is relevant to human disease - Development
How imprinting is relevant to human disease - Development

... syndrome, Williams syndrome, Russell-Silver syndrome, etc. the possibility that they represent uniparental disomy for other chromosomes must be explored, since they are syndromes in which the major abnormalities consist of disharmonic growth and abnormal behaviour rather than major structural congen ...
Involvement of Sox1, 2 and 3 in the early and subsequent molecular
Involvement of Sox1, 2 and 3 in the early and subsequent molecular

... Activation of the first lens-specific gene of the chicken, δ1crystallin, is dependent on a group of lens nuclear factors, δEF2, interacting with the δ1-crystallin minimal enhancer, DC5. One of the δEF2 factors was previously identified as SOX2. We show that two related SOX proteins, SOX1 and SOX3, a ...
Mating-Type Genes From the Homothallic Fungus Sordaria
Mating-Type Genes From the Homothallic Fungus Sordaria

... role of mating-products during fruiting body development, we cloned and sequenced the entire macrospora mating-type locus. Comparison of the Sordaria mating-type locus with mating-type idiomorphs from the heterothallic ascomycetesNeurospora crassa and Podospora ansa'na revealed that sequences from b ...
Cilia are at the heart of vertebrate left–right asymmetry
Cilia are at the heart of vertebrate left–right asymmetry

... Nodal flow initiates left–right asymmetry The first evidence for a function of node monocilia in initiating LR asymmetry came from study of mice with a mutation affecting KIF3B, an essential component of IFT. The KIF3B knockout mice have defective development of LR asymmetry, along with midegestatio ...
Differentiated thyroid cancer: growth factors, oncogenes
Differentiated thyroid cancer: growth factors, oncogenes

... genes have been investigated by numerous authors (2-5). In the countries with low iodine intake, until the end of 60s, such as Germany and Austria, the incidence of thyroid diseases is still high in the elderly, who lived for a longer period of iodine deficiency (Austria: 34.3% in women and 21.3% in ...
some inconvenient truths about sex chromosome dosage
some inconvenient truths about sex chromosome dosage

... expected to perturb all the other interacting genes throughout the genome. The relative expression of interacting genes is important for phenotypes and fitness (e.g., Smith et al., 2009b), therefore because the reduction in transcription from X-linked genes might disrupt gene networks in the heterog ...
Genetic Predisposition to Breast and/or Ovarian Cancer – Focus on
Genetic Predisposition to Breast and/or Ovarian Cancer – Focus on

... proteins co-working with BRCA1 and BRCA2 in the same molecular pathways led to the identification of a second group of alterations that confer susceptibility to breast and/or ovarian cancer. This group comprises uncommon variants associated with moderate risk of breast and/or ovarian cancer (Beggs a ...
DYAD in meiotic chromosome organisation - Development
DYAD in meiotic chromosome organisation - Development

... synapsis and formed ten univalents instead of five bivalents. Unlike mutations in AtDMC1 and AtSPO11 which also affect bivalent formation as the univalent chromosomes segregate randomly, the dyad univalents formed an ordered metaphase plate and underwent an equational division. This suggests a requi ...
Expression of floricaula in single cell layers of
Expression of floricaula in single cell layers of

Genome-wide analysis of the distribution of AP2/ERF transcription
Genome-wide analysis of the distribution of AP2/ERF transcription

... cabbage genome sequence and more than fifty thousand proteins have been obtained to date. However a high degree of sequence similarity and conserved genome structure remain between cabbage and Arabidopsis; therefore, Arabidopsis is a viable reference species for comparative genomics studies. Transcr ...
understanding heredity
understanding heredity

... to flowers, peas, and beans, and even to little flies. There is a reason for this. Looking at nature we can find structures, phenomena, activities, and functions which are specific for particular plants or animals. Man alone, for example, has that unique tool, the hand, which, in conjunction with th ...
Prospective diagnostic analysis of copy number variants using SNP
Prospective diagnostic analysis of copy number variants using SNP

... the probable cause of ASD, based on their large size, absence from healthy individuals, de novo occurrence and/or presence in previously reported syndromes associated with ID and ASD: a de novo triplication of the 15q11–q12 region in a male subject (family 772), a deletion of the 9p24 region in a fe ...
Control of Growth and of the Nuclear Division Cycle in Neurospora
Control of Growth and of the Nuclear Division Cycle in Neurospora

... given temperature (between 20 and 400C for mesophilic organisms), the cell composition, in terms of DNA, RNA, and protein contents, is uniquely related to the rate of growth (7, 19, 91, 99-101, 122, 126, 185). Figure 1 gives the cell composition of N. crassa mycelia as a function of the rate of grow ...
and GvpD-mediated transcription regulation of the p
and GvpD-mediated transcription regulation of the p

... The transcription of the 14 p-gvp genes involved in gas vesicle formation of Halobacterium salinarum PHH1 is driven by the four promoters pA, pD, pF and pO. The regulation of these promoters was investigated in Haloferax volcanii transformants with respect to the endogenous regulatory proteins GvpE ...
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Polycomb Group Proteins and Cancer

The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
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