Alu
... The highest Alu and gene densities – Chromosome 19, 22 Alu density is correlated in the order GC content > gene density > intron density The abundance of Alu subfamilies – Alu S > Alu J > Alu Y ...
... The highest Alu and gene densities – Chromosome 19, 22 Alu density is correlated in the order GC content > gene density > intron density The abundance of Alu subfamilies – Alu S > Alu J > Alu Y ...
Y chromosome azoospermia factor region microdeletions and
... Abstract: Spermatogenesis is an essential reproductive process that is regulated by many Y chromosome specific genes. Most of these genes are located in a specific region known as the azoospermia factor region (AZF) in the long arm of the human Y chromosome. AZF microdeletions are recognized as the ...
... Abstract: Spermatogenesis is an essential reproductive process that is regulated by many Y chromosome specific genes. Most of these genes are located in a specific region known as the azoospermia factor region (AZF) in the long arm of the human Y chromosome. AZF microdeletions are recognized as the ...
GENETICS accepted
... unique PCR fragments for the upper and lower strands. These were then transcribed according to the manufacturer’s instructions (Ambion/Applied Biosystems, Austin, TX) and annealed by incubating for 10 minutes at 70°C and slow cooling to room temperature. dsRNA was injected at a total RNA concentrati ...
... unique PCR fragments for the upper and lower strands. These were then transcribed according to the manufacturer’s instructions (Ambion/Applied Biosystems, Austin, TX) and annealed by incubating for 10 minutes at 70°C and slow cooling to room temperature. dsRNA was injected at a total RNA concentrati ...
Genomic Analysis of Hox Clusters in the Sea Lamprey
... clone, which had a unique restriction map. Nucleotide sequences are available in GenBank, accession numbers AF410908–AF410925. The deduced amino acid sequences are shown aligned to mouse and amphioxus sequences in Figure 2. To assign genes to Hox cognate groups, the complete homeodomain amino acid s ...
... clone, which had a unique restriction map. Nucleotide sequences are available in GenBank, accession numbers AF410908–AF410925. The deduced amino acid sequences are shown aligned to mouse and amphioxus sequences in Figure 2. To assign genes to Hox cognate groups, the complete homeodomain amino acid s ...
The Chromosomal Basis of Inheritance
... males to pair and behave like homologous chromosomes during meiosis in the testes. In mammalian testes and ovaries, the two sex chromosomes segregate during meiosis, and each gamete receives one. Each egg contains one X chromosome. In contrast, sperm fall into two categories: Half the sperm cells a ...
... males to pair and behave like homologous chromosomes during meiosis in the testes. In mammalian testes and ovaries, the two sex chromosomes segregate during meiosis, and each gamete receives one. Each egg contains one X chromosome. In contrast, sperm fall into two categories: Half the sperm cells a ...
Identification of chromosome intervals from 129 and C57BL/6 mouse
... a knockout strain in which the gene located in that region has been inactivated in 129 embryonic stem cells, also developed an autoimmune phenotype. The humoral autoimmunity in this congenic strain was indistinguishable to that observed in a mouse carrying a deletion of the Apcs gene, located within ...
... a knockout strain in which the gene located in that region has been inactivated in 129 embryonic stem cells, also developed an autoimmune phenotype. The humoral autoimmunity in this congenic strain was indistinguishable to that observed in a mouse carrying a deletion of the Apcs gene, located within ...
Gene Duplication - Semantic Scholar
... detailed information about retroposition-mediated gene duplication. Most genetics textbooks, including Klug, et al. 2009, describe detailed mechanisms of chromosomal and genome duplication, which are also referred to as aneuploidization and polyploidization, respectivel ...
... detailed information about retroposition-mediated gene duplication. Most genetics textbooks, including Klug, et al. 2009, describe detailed mechanisms of chromosomal and genome duplication, which are also referred to as aneuploidization and polyploidization, respectivel ...
alignable - gobics.de: Department of Bioinformatics
... For each position x and each sequence Si exist an upper bound ub(x,i) and a lower bound lb(x,i) for residues y in Si that are alignable with x ...
... For each position x and each sequence Si exist an upper bound ub(x,i) and a lower bound lb(x,i) for residues y in Si that are alignable with x ...
Detecting copy number variants and runs of homozygosity on a
... used. To distinguish between isodisomy and chance of a discernible phenotype. Long ROH are heterodisomy it is necessary to analyse the most commonly caused by UPD, but can also be inheritance of the ROH. It is important to be able to due to consanguinity or shared parental ancestry9. A distinguish b ...
... used. To distinguish between isodisomy and chance of a discernible phenotype. Long ROH are heterodisomy it is necessary to analyse the most commonly caused by UPD, but can also be inheritance of the ROH. It is important to be able to due to consanguinity or shared parental ancestry9. A distinguish b ...
Genome partitioning of genetic variation for complex traits using
... cEstimate of variance explained by all autosomal SNPs. dNarrow sense heritability estimate from family or twin studies from the a multiple regression analysis of the estimate literature. eVariance explained by GWAS associated loci from the literature. PC, principal component; s.e., standard error. o ...
... cEstimate of variance explained by all autosomal SNPs. dNarrow sense heritability estimate from family or twin studies from the a multiple regression analysis of the estimate literature. eVariance explained by GWAS associated loci from the literature. PC, principal component; s.e., standard error. o ...
Silene sex chromosome genetic map, p. 1 Expansion of
... Silene sex chromosome genetic map, p. 6 Young sex chromosome systems, in which evolutionary strata are still evolving, are particularly relevant for testing the SA polymorphism hypothesis, because (unlike some ancient sex chromosome systems) they may often have physically large PAR regions, contain ...
... Silene sex chromosome genetic map, p. 6 Young sex chromosome systems, in which evolutionary strata are still evolving, are particularly relevant for testing the SA polymorphism hypothesis, because (unlike some ancient sex chromosome systems) they may often have physically large PAR regions, contain ...
Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12.
... referred to publications of the chromosomal workshops of the World Congress in Psychiatric Genetics.13 Several chromosomal regions have been implicated by genome-wide findings of only nominal significance, but have been similarly identified by other independent scans,12,14–17 suggesting that even se ...
... referred to publications of the chromosomal workshops of the World Congress in Psychiatric Genetics.13 Several chromosomal regions have been implicated by genome-wide findings of only nominal significance, but have been similarly identified by other independent scans,12,14–17 suggesting that even se ...
Positive and Negative Selection on Noncoding
... During the past two decades, evidence has accumulated of adaptive evolution within protein-coding genes in a variety of species. However, with the exception of Drosophila and humans, little is known about the extent of adaptive evolution in noncoding DNA. Here, we study regions upstream and downstre ...
... During the past two decades, evidence has accumulated of adaptive evolution within protein-coding genes in a variety of species. However, with the exception of Drosophila and humans, little is known about the extent of adaptive evolution in noncoding DNA. Here, we study regions upstream and downstre ...
2q32 deletions and microdeletions FTNP
... have thin, sparse hair, a long face with a high forehead, a small mouth, unusually positioned and formed teeth and unusually formed ears. Their eyes may be unusually short and most typically slant downwards; the upper eyelid may be hooded. The head is typically though not always very small (Mencarel ...
... have thin, sparse hair, a long face with a high forehead, a small mouth, unusually positioned and formed teeth and unusually formed ears. Their eyes may be unusually short and most typically slant downwards; the upper eyelid may be hooded. The head is typically though not always very small (Mencarel ...
A Genetic Linkage Map of Mouse Chromosome 10
... to the human exon 1 probe was cloned and mapped in the IB, as well. Again, the mouse genomic probe exhibited no crossovers with the first two probes. Since the exon 1 probes detect single copy sequences and do not cross-hybridize with the BCR-related loci in humans, we concludethat we have mapped th ...
... to the human exon 1 probe was cloned and mapped in the IB, as well. Again, the mouse genomic probe exhibited no crossovers with the first two probes. Since the exon 1 probes detect single copy sequences and do not cross-hybridize with the BCR-related loci in humans, we concludethat we have mapped th ...
version pdf - Atlas of Genetics and Cytogenetics in Oncology and
... Patients with chromosome aberrations always have a distinct clinical picture. They resemble each other as a group Many, but not all chromosome aberrations, cause a highly distinct pattern of abnormalities; patients with these aberrations resemble each other more than their sibs and parents Although ...
... Patients with chromosome aberrations always have a distinct clinical picture. They resemble each other as a group Many, but not all chromosome aberrations, cause a highly distinct pattern of abnormalities; patients with these aberrations resemble each other more than their sibs and parents Although ...
Lack of expression of XIST from a small ring X chromosome
... nonrandom X-chromosome inactivation, digestion with HhaI resulted in loss of only one allele, that from the active X chromosome (Figure 3B). The ZXDA gene in Xp11 contains a polymorphic CA repeat in the transcribed but untranslated region of the gene. This gene is subject to X-chromosome inactivatio ...
... nonrandom X-chromosome inactivation, digestion with HhaI resulted in loss of only one allele, that from the active X chromosome (Figure 3B). The ZXDA gene in Xp11 contains a polymorphic CA repeat in the transcribed but untranslated region of the gene. This gene is subject to X-chromosome inactivatio ...
Cytogenetic genotype-phenotype studies: Improving genotyping
... cardiomyopathy (3.1 Mb), hypothyroidism (4.1 Mb) and clefting (4.1 Mb). Because the terminal region of 1p36 is gene rich, no candidate genes could be determined. In the same year, this group published their data using a dedicated 1p36 array CGH (Yu et al., 2003). This array was designed by using the ...
... cardiomyopathy (3.1 Mb), hypothyroidism (4.1 Mb) and clefting (4.1 Mb). Because the terminal region of 1p36 is gene rich, no candidate genes could be determined. In the same year, this group published their data using a dedicated 1p36 array CGH (Yu et al., 2003). This array was designed by using the ...
Cot-1 banding of human chromosomes using fluorescence
... for in situ hybridization to suppress non-specific binding of genomic DNA probes to chromosome spreads (Lichter et al., 1988, 1990a, 1990b). Particularly, its use for gene mapping by the fluorescence in situ hybridization (FISH) becomes increasingly important. However, little is known about the rela ...
... for in situ hybridization to suppress non-specific binding of genomic DNA probes to chromosome spreads (Lichter et al., 1988, 1990a, 1990b). Particularly, its use for gene mapping by the fluorescence in situ hybridization (FISH) becomes increasingly important. However, little is known about the rela ...
Educational Item Section Clinical findings in chromosome aberrations in Oncology and Haematology
... differentiated structures, e.g. facies, male genitalia, distal limbs. Development : • Often most impressive in early childhood. • Tendency to catch-up growth of facial structures. • In some aberrations marked changes with age. ...
... differentiated structures, e.g. facies, male genitalia, distal limbs. Development : • Often most impressive in early childhood. • Tendency to catch-up growth of facial structures. • In some aberrations marked changes with age. ...
Genomic overview of serine proteases
... on chromosome 19. Most genes are sporadic and relatively few clusters exist. The largest cluster of serine proteases is the kallikrein family, located on the long arm of chromosome 19 (19q13.4). This cluster is formed of 15 genes and covers a genomic area of about 300 kb. A second cluster is found o ...
... on chromosome 19. Most genes are sporadic and relatively few clusters exist. The largest cluster of serine proteases is the kallikrein family, located on the long arm of chromosome 19 (19q13.4). This cluster is formed of 15 genes and covers a genomic area of about 300 kb. A second cluster is found o ...
Detection of chromosome 2 and chromosome 7 within X-ray
... the same chromosomes (Table II) within a binucleated lymphocyte is not surprising; their packing into different micronuclei can be expected because of the spatial location of the fragments belonging to the same damaged chromosome. The targets of the damaging action of colchicine are the microtubules ...
... the same chromosomes (Table II) within a binucleated lymphocyte is not surprising; their packing into different micronuclei can be expected because of the spatial location of the fragments belonging to the same damaged chromosome. The targets of the damaging action of colchicine are the microtubules ...
Article Purifying Selection Maintains Dosage
... et al. 2010). In this time, the Y chromosome has structurally differentiated from the X chromosome through a series of at least three pericentric inversions and an apparent approximately 6 Mb deletion (Ross and Peichel 2008). Recombination has been suppressed between the X and Y chromosome across th ...
... et al. 2010). In this time, the Y chromosome has structurally differentiated from the X chromosome through a series of at least three pericentric inversions and an apparent approximately 6 Mb deletion (Ross and Peichel 2008). Recombination has been suppressed between the X and Y chromosome across th ...