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A selfish origin for recombination
... discussion I will refer to the physical process of interaction and exchange between two DNA molecules as crossing over, and recombination will mean a possible outcome of crossing over (producing recombinant chromosomes), the other possible outcome being without recombination (producing non-recombina ...
... discussion I will refer to the physical process of interaction and exchange between two DNA molecules as crossing over, and recombination will mean a possible outcome of crossing over (producing recombinant chromosomes), the other possible outcome being without recombination (producing non-recombina ...
The dystrophin / utrophin homologues in Drosophila and in sea urchin
... cDNA primer was from exon 4. The antisense PCR primer that consisted of exons 3±4 border sequences, and sense primers that were speci®c to each dmDLP isoform. The PCR reaction was stopped after 27 cycles. The products were size fractionated and transferred to nylon ®lters. After hybridization to int ...
... cDNA primer was from exon 4. The antisense PCR primer that consisted of exons 3±4 border sequences, and sense primers that were speci®c to each dmDLP isoform. The PCR reaction was stopped after 27 cycles. The products were size fractionated and transferred to nylon ®lters. After hybridization to int ...
Slide 1
... • To test for under-enrichment of “black”, test for over-enrichment of “red”. • The EASE score used by DAVID subtracts one from the observed overlap between gene list and gene set to ensure >1 from the list is in the gene set. • Need to choose “background population” appropriately, e.g., if only por ...
... • To test for under-enrichment of “black”, test for over-enrichment of “red”. • The EASE score used by DAVID subtracts one from the observed overlap between gene list and gene set to ensure >1 from the list is in the gene set. • Need to choose “background population” appropriately, e.g., if only por ...
Gene Section JAK3 (janus kinase 3 or just another kinase 3)
... heterozygotes, having inherited a distinct mutation from each parent, although some individuals are homozygous for their mutations as a result of parental consanguinity. Most mutations have dramatic effects on protein expression of JAK3, but some missense mutations or small in-frame deletions allow ...
... heterozygotes, having inherited a distinct mutation from each parent, although some individuals are homozygous for their mutations as a result of parental consanguinity. Most mutations have dramatic effects on protein expression of JAK3, but some missense mutations or small in-frame deletions allow ...
Definition of historical models of gene function and their relation to
... arise: (2) conceptual assessment problems, which consider (a) the internal consistency and coherence of the model, i.e., when the model exhibits logical inconsistencies, self-contradictions, conceptual ambiguity, or circularity (b) the external consistency, i.e., if the model fits the extended conce ...
... arise: (2) conceptual assessment problems, which consider (a) the internal consistency and coherence of the model, i.e., when the model exhibits logical inconsistencies, self-contradictions, conceptual ambiguity, or circularity (b) the external consistency, i.e., if the model fits the extended conce ...
REVIEW ARTICLE Gene cassettes
... located downstream of the gene coding region (Hall e t al., 1991). Generally, each gene cassette possesses a unique 59base element, and both the length and sequence of 59-base elements can vary considerably (see Table 1 and Fig. 4). However, despite this heterogeneity, all 59-base elements share sev ...
... located downstream of the gene coding region (Hall e t al., 1991). Generally, each gene cassette possesses a unique 59base element, and both the length and sequence of 59-base elements can vary considerably (see Table 1 and Fig. 4). However, despite this heterogeneity, all 59-base elements share sev ...
Deep Insight Section RET point mutations in Thyroid Carcinoma
... later, also MEN 2B was associated with germline point mutations of the RET proto-oncogene (Eng et al., 1994; Carlson et al., 1994; Hofstra et al., 1994). Since then, a large number of publications have addressed the relationship between RET mutations and the clinical phenotype of MEN 2 patients and ...
... later, also MEN 2B was associated with germline point mutations of the RET proto-oncogene (Eng et al., 1994; Carlson et al., 1994; Hofstra et al., 1994). Since then, a large number of publications have addressed the relationship between RET mutations and the clinical phenotype of MEN 2 patients and ...
Developmental and genetic disorders in
... directing germ cell maturation at all stages of spermatogenesis. At the clinical level, many new diagnostic approaches are available, and these enlarge the therapeutic options for managing clinical disorders in spermatogenesis that were formerly untreatable. New diagnostic protocols also expand the ...
... directing germ cell maturation at all stages of spermatogenesis. At the clinical level, many new diagnostic approaches are available, and these enlarge the therapeutic options for managing clinical disorders in spermatogenesis that were formerly untreatable. New diagnostic protocols also expand the ...
Cooperative Effects of Bacterial Mutations Affecting A N Gene
... conferring Supernus activity were mapped by Pl mediated transduction. Since nitrosoguanidine is known to cause multiple mutations (Cerda-Olmedo and Hanawalt, 19681, it was necessary to determine if the Snu mutations were identical to the RifR mutations selected. The genetic information in the rif re ...
... conferring Supernus activity were mapped by Pl mediated transduction. Since nitrosoguanidine is known to cause multiple mutations (Cerda-Olmedo and Hanawalt, 19681, it was necessary to determine if the Snu mutations were identical to the RifR mutations selected. The genetic information in the rif re ...
Use of GenoType MTBDR plus assay for the detection of
... does not lose its enzymatic activity. The mycobacterial cells, having a inhA gene mutation synthesis of mycolic acids, occurs in the presence of isoniazid. It should, however, be noted that commercial molecular tests only take into account those areas of the genes responsible for drug resistance in ...
... does not lose its enzymatic activity. The mycobacterial cells, having a inhA gene mutation synthesis of mycolic acids, occurs in the presence of isoniazid. It should, however, be noted that commercial molecular tests only take into account those areas of the genes responsible for drug resistance in ...
Biochemical but not clinical vitamin A deficiency results from
... DNA sequence of exon 3 with that in a control subject and found no irregularities in nucleotide sequence (Figure 1). RBP gene analysis Because the analysis of the TTR gene was negative, we investigated the possibility that mutations in the RBP gene induced the extremely low plasma concentrations of ...
... DNA sequence of exon 3 with that in a control subject and found no irregularities in nucleotide sequence (Figure 1). RBP gene analysis Because the analysis of the TTR gene was negative, we investigated the possibility that mutations in the RBP gene induced the extremely low plasma concentrations of ...
Click
... databases are interlinked, and it is possible to readily move between databases to mine all types of data from NCBI. Once you have found the gene that you are interested from either from an ENTREZ search or an OMIM search, you should now be able to navigate to: 1) find the RefSeq for the gene and al ...
... databases are interlinked, and it is possible to readily move between databases to mine all types of data from NCBI. Once you have found the gene that you are interested from either from an ENTREZ search or an OMIM search, you should now be able to navigate to: 1) find the RefSeq for the gene and al ...
Application No. DIR 108 SUMMARY INFORMATION
... genes obtained from the soil bacterium Bacillus amyloliquefaciens. Barnase encodes a ribonuclease enzyme called barnase, and barstar encodes a specific inhibitor of the barnase enzyme. Barnase is produced specifically in the male parts of GM flowers and prevents pollen production, resulting in male- ...
... genes obtained from the soil bacterium Bacillus amyloliquefaciens. Barnase encodes a ribonuclease enzyme called barnase, and barstar encodes a specific inhibitor of the barnase enzyme. Barnase is produced specifically in the male parts of GM flowers and prevents pollen production, resulting in male- ...
Complex genetic background in a large family with Brugada syndrome
... determined from I/V relationships by normalizing peak INa to driving force and maximal INa. Parameters for the voltage-dependence steady state of activation and steady state of inactivation (20-msec test pulse to -10 mV after a 500 msec conditioning prepulse). (D) Sodium current timeto-peak values w ...
... determined from I/V relationships by normalizing peak INa to driving force and maximal INa. Parameters for the voltage-dependence steady state of activation and steady state of inactivation (20-msec test pulse to -10 mV after a 500 msec conditioning prepulse). (D) Sodium current timeto-peak values w ...
Cys mutation of fibroblast growth factor receptor 3 in mouse
... Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several types of human skeletal dysplasia, including the neonatally lethal dwarfism known as thanatophoric dysplasia. An engineered Ser365→Cys substitution in mouse FGFR3, which is equivalent to a mutation associated with th ...
... Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several types of human skeletal dysplasia, including the neonatally lethal dwarfism known as thanatophoric dysplasia. An engineered Ser365→Cys substitution in mouse FGFR3, which is equivalent to a mutation associated with th ...
Chromosomal Basis of Inheritance Final
... of nonparental genotypes To explain the appearance of nonparental genotypes in linked genes, Morgan proposed that genes are physically exchanged between homologous chromosomes during meiosis. The exchange of genes between homologous chromosomes is called “crossing-over” Genes that are far from each ...
... of nonparental genotypes To explain the appearance of nonparental genotypes in linked genes, Morgan proposed that genes are physically exchanged between homologous chromosomes during meiosis. The exchange of genes between homologous chromosomes is called “crossing-over” Genes that are far from each ...
1q21 microdeletions
... chromosomes of both parents. The parents’ chromosomes should be checked even if they are themselves completely healthy with no developmental problems at all. If one parent has the same microdeletion, it has been inherited. If both parents have normal chromosomes, the 1q21.1 microdeletion is a new oc ...
... chromosomes of both parents. The parents’ chromosomes should be checked even if they are themselves completely healthy with no developmental problems at all. If one parent has the same microdeletion, it has been inherited. If both parents have normal chromosomes, the 1q21.1 microdeletion is a new oc ...
characterizing the genetic bases of autosomal recessive disorders
... and their families. Elucidating the genetic bases of such disorders is essential to improve their clinical outcome and for implementing effective prevention programs. In this dissertation, the genetic bases of seven autosomal recessive disorders in consanguineous families were investigated using hom ...
... and their families. Elucidating the genetic bases of such disorders is essential to improve their clinical outcome and for implementing effective prevention programs. In this dissertation, the genetic bases of seven autosomal recessive disorders in consanguineous families were investigated using hom ...
Editorial - Ontario Association on Developmental Disabilities
... serum-screening test. If a more accurate diagnosis is desired during a pregnancy, then fetal chromosomes can be studied in cells from amniotic fluid or from a chorionic villus biopsy. Down syndrome can also be diagnosed by studying chromosomes shortly after birth. In opposition to commonly held beli ...
... serum-screening test. If a more accurate diagnosis is desired during a pregnancy, then fetal chromosomes can be studied in cells from amniotic fluid or from a chorionic villus biopsy. Down syndrome can also be diagnosed by studying chromosomes shortly after birth. In opposition to commonly held beli ...
Saethre–Chotzen syndrome
![](https://commons.wikimedia.org/wiki/Special:FilePath/Sutures_from_top.png?width=300)
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.