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Developmental and genetic disorders in
Developmental and genetic disorders in

... The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches ...
Xenobiotic-metabolizing cytochrome P450 enzymes in human lung
Xenobiotic-metabolizing cytochrome P450 enzymes in human lung

... (Nelson et al. 1996, Bertz & Granneman 1997). The first report on the existence of a CYP enzyme or a “microsomal carbon monoxide-binding pigment”, as it was called at that time, was published in 1958 by Klingenberg et al. This enzyme gave a unique 450nm optical absorption peak, and when its hemoprot ...
A Single Arabidopsis Gene Encodes Two
A Single Arabidopsis Gene Encodes Two

... true GGPPS isoforms actually belong to a novel type of prenyldiphosphate synthases that mainly produce C25 geranylfarnesyl diphosphate (GFPP) or even longer products (Nagel et al., 2015; Wang et al., 2016). The sG11 protein lacks 19 residues predicted to be present in the N-terminal region of the ma ...
Non-cell-autonomous regulation of root hair patterning genes by
Non-cell-autonomous regulation of root hair patterning genes by

... 3K). Plants transformed with constructs containing only 2.2 kb upstream region (pWRKY75:GUS) showed no GUS expression in 20 T1 seedlings. ...
Control of ribosome traffic by position-dependent
Control of ribosome traffic by position-dependent

... the ribosome binding site as well as the start codon, which varies depending on the gene [21]. Ks is an important parameter for the ribosome traffic; when Ks is low there will be few collisions between ribosomes, while it is likely that a high Ks will cause collisions and ribosome queuing. In order ...
PDF
PDF

... (ATHB2), HOMEOBOX ARABIDOPSIS THALIANA 1 (HAT1), HAT2, HAT3 and ATHB4 are regulated by changes in the red/far red light ratio that induce shade avoidance in most of the angiosperms. Here, we show that progressive loss of HAT3, ATHB4 and ATHB2 activity causes developmental defects from embryogenesis ...
Chapter 13
Chapter 13

Polyploidy Enhances F Pollen Sterility Loci
Polyploidy Enhances F Pollen Sterility Loci

... expressed genes and stage-specific gene expression. The complexity of gene expression during anther and ovary development has been revealed using microarrays or RNA sequencing in diploid rice (Tang et al., 2010; Aya et al., 2011; Deveshwar et al., 2011; Jin et al., 2013; Pan et al., 2014), maize (Zea ...
CTLA-4 gene expression is influenced by promoter and
CTLA-4 gene expression is influenced by promoter and

... murine cytolytic T-cell cDNA library,5 and the gene encoding the molecule is in humans located on chromosome 2q33-q34, 25–150 kilobases from the CD28 gene, with which it shares extensive sequence homology.6 Expression of CTLA-4 is mainly restricted to CD4+ and CD8+ activated T-lymphocyte subsets,7 b ...
PCR Clean-up Kit / 96-well PCR Clean
PCR Clean-up Kit / 96-well PCR Clean

... enzymatic reactions, such as restriction and sequencing. The alkaline lysate is neutralized by a high-salt buffer (S3) which also establishes the proper conditions for binding the plasmid to the AxyPrep Plasmid Plate. During neutralization, the bacterial chromosomal DNA and cellular debris form a c ...
shows altered stratification and cell polarity
shows altered stratification and cell polarity

... rays of upper and lower limbs, resulting in a deep medial cleft, missing or hypoplastic central fingers and fusion of the lateral ones (reviewed in 1,2). SHFM comprises both syndromic or isolated forms, linked to six loci (3–5). The most common non-syndromic form is SHFM type-1, associated to variabl ...
Interaction-based evolution: how natural selection and nonrandom
Interaction-based evolution: how natural selection and nonrandom

... To explain adaptive evolution, we still use today ideas from the foundations of the modern evolutionary synthesis formed in the 1920s and 1930s. Yet there has been a sea of change in the empirical realities since then. The molecular biology and genomics revolutions have occurred and brought with the ...
Tombola, a tesmin/TSO1-family protein, regulates
Tombola, a tesmin/TSO1-family protein, regulates

... chromatin in wild-type and achi/vis primary spermatocytes, but not in aly, comr or tomb mutant cells. Concentration of ectopically expressed EGFP-Tomb on chromatin in the nucleus is normal in achi/vis or can-class mutants, but is altered in aly and comr mutants. ...
CEP290 alleles in mice disrupt tissue-specific cilia
CEP290 alleles in mice disrupt tissue-specific cilia

... (Fig. 3B). Similar to the Cep290rd16/rd16 mutant (33,46), profound degenerative changes were evident at Postnatal day (P)14, including a thinner outer nuclear layer (ONL), no outer segments and severely shortened inner segments; most photoreceptors were lost by P28 (Fig. 3C). To assess the cerebral ...
The University of Chicago Genetic Services Laboratories
The University of Chicago Genetic Services Laboratories

... performed by oligonucleotide array-CGH. Partial exonic copy number changes and rearrangements of less than 400 bp may not be detected by array-CGH. Array-CGH will not detect low-level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotyp ...
PDF
PDF

... into additive and dominance effects has been used for conventional quantitative genetic analyses and recently for mapping quantitative trait loci (QTL; see, e.g., Lynch and Walsh, 1998). Numerous statistical models have been proposed for such partitioning. Some of them are restricted to populations ...
ADVANCING JUSTICE THROUGH DNA TECHNOLOGY
ADVANCING JUSTICE THROUGH DNA TECHNOLOGY

... Strengthen Crime Laboratory Capacity: The initiative provides funding to improve the analysis capacity of federal, state, and local crime labs so they can process DNA samples efficiently and cost-effectively and help prevent future backlogs. Stimulate Research and Development: The initiative provide ...
A new method to detect causative mutations in fibrinogen
A new method to detect causative mutations in fibrinogen

... defects without affecting the total amount of fibrinogen to the complete or almost complete absence of fibrinogen in plasma in cases of afibrinogenaemia (3). Because most mutations are found in patients and/or families suffering from diseases of haemostasis, they allow us to study the relationship o ...
Loss of Hox-A1 (Hox-1.6) function results in the
Loss of Hox-A1 (Hox-1.6) function results in the

... 1064 E. M. Carpenter and others is found in the developing nervous system to an anterior limit between rhombomeres 3 and 4. Expression subsequently retreats posteriorly and by E8.5 of development, hox-A1 is no longer expressed in the hindbrain or associated mesoderm (Murphy and Hill, 1991). Hindbra ...
An Introduction to Streptomyces
An Introduction to Streptomyces

Antibodies Instructional Module
Antibodies Instructional Module

... The variable region is made up of two parts: the framework region and hypervariable region. The framework region is structurally similar. But most importantly, the hypervariable regions are extremely diverse, as the name indicates. This allows for the creation of a wide variety of antibodies, and in ...
C3H/HeJ
C3H/HeJ

... 2 Center for Biologics Research, Biologics and Genetic Therapies Directorate, Health Canada ...
Meiosis - Myersbiology
Meiosis - Myersbiology

... Meiosis reduces the number of chromosomes by half. Daughter cells differ from parent, and each other. Meiosis involves two divisions, Mitosis only one. Meiosis I involves: – Synapsis – homologous chromosomes pair up. Chiasmata form (crossing over of non-sister chromatids). – In Metaphase I, homologo ...
Genome-wide characteristics of sequence coverage by next
Genome-wide characteristics of sequence coverage by next

... 2003 - Essential Completion = 30, 000 – 40,000 genes ?? = 24, 195 genes !!!??? ...
International Journal of Antimicrobial Agents ksgA mutations confer
International Journal of Antimicrobial Agents ksgA mutations confer

... used. The RM11.2 strain was only grown in the presence of isopropyl ␤-d-1-thiogalactopyranoside (IPTG) when recA expression was required, after which the pilE locus was sequenced to confirm that the resulting bacteria maintained the parental pilin sequence. Clinical isolates were grown on Bacto GC me ...
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Site-specific recombinase technology



Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse
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