NR507 Midterm
Study online at https://quizlet.com/_4c0uqz
1. Epigenetics: heritable alterations that are not due to changes in DNA sequence
2. epigenetic modifications, or "tags," such as DNA methylation and histone
modification: alter DNA accessibility and chromatin structure, thereby regulating patterns of gene expression.
3. histone modifications: A histone modification is a covalent post-translational modification (PTM) to
histone proteins which includes methylation, phosphorylation, acetylation, ubiquitylation, and sumoylation. The PTMs
made to histones can impact gene expression by altering chromatin structure or recruiting histone modifiers. Histone
proteins act to package DNA, which wraps around the eight histones, into chromosomes. Histone modifications
act in diverse biological processes such as transcriptional activation/inactivation, chromosome packaging, and DNA
damage/repair. Quantitative detection of various histone modifications would provide useful information for a better
understanding of epigenetic regulation of cellular processes and the development of histone modifying enzyme-tar-
geted drugs.
4. Prader-Willi syndrome: Prader-Willi syndrome is a complex genetic condition that affects many parts of
the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth,
and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to
chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity,
also develop type 2 diabetes (the most common form of diabetes)
5. Angelman syndrome: Angelman syndrome is a complex genetic disorder that primarily affects the nervous
system. Characteristic features of this condition include delayed development, intellectual disability, severe speech
impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures
(epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12
months, and other common signs and symptoms usually appear in early childhood.
6. Prader-Willi Syndrome vs. Angelman syndrome: Prader-Willi syndrome (PWS) and Angel-
man syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have
characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities.
However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral
and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insuffi-
ciency. Both disorders can result from microdeletion, uniparental disomy, or an imprinting center defect in 15q11-q13,
although the abnormality is on the paternally derived chromosome 15 for PWS and the maternally derived 15 for
AS because of genomic imprinting. Although the same gene may control imprinting for both disorders, the gene(s)
causing their phenotypes differ. AS results from underexpression of a single gene, UBE3A, which codes for E6-AP, a
protein that functions to transfer small ubiquitin molecules to certain target proteins, to enable their degradation. The
genes responsible for PWS are not determined, although several maternally imprinted genes in 15q11-q13 are known.
1/6
, NR507 Midterm
Study online at https://quizlet.com/_4c0uqz
The most likely candidate is SNRPN, which codes for a small nuclear ribonucleoprotein, a ribosome-associated protein
that controls gene splicing and thus synthesis of critical proteins in the brain. Animal models exist for both disorders.
The genetic relationship between PWS and AS makes them unique and potentially highly instructive disorders that
contribute substantially to the population burden of cognitive impairment.
7. When do circulating erythrocytes play a major role in delivering oxygen to the
tissues: The after two weeks of gestation
8. When does the production of erythrocytes shift from the vessels to deliver
sinusoids?: At approximately the eighth week of gestation the site shifts from the vessels to deliver sinusoidal. The
production of leukocytes and platelets begin in the liver and spleen. Erythropoiesis in the liver and in the spleen and
lymph nodes, reaches a peak at approximately four months.
9. Hematopoiesis begins to occur in the bone marrow in the fifth month increas-
es rapidly until red marrow fills _________________________: Entire bone marrow space.
10. By the time of delivery, the _________________ is the only significant site of
hematopoiesis: Marrow
11. hematopoetic marrow bills the bony cavities of the entire axial skeleton and
many intra-membranous bones in what age group?: Neonates and young infants
12. Fatty (yellow) marrow gradually replaces hematopoetc _________________: Mar-
row
13. Lymphocytes of children have more_____________ and less____________ than do
the lymphocytes of adult: Cytoplasm; compact nuclearchromatin
14. Infectivity: Ability of the pathogen to establish an infection.
The pathogen capacity or horizontal transmission not in a parent-child relationship.
Well will
15. Analytic disease of the newborn: Antigenic properties of erythrocytes are determined genetically..
This recites that express Rh antigen D are Rh positive, those that do not are Rh negative.
16. Frequency of Rh negativity is higher in whites than in___________________: Blacks
and is rare in Asians.
17. Erythroblastosis fetalis: Erythroblasts released into the bloodstream of the fetus.
18. Effective treatment of HIV: Anti-- retroviral therapy
combination of three or more drugs
combination therapy is the most effective treatment for HIV
2/6
Study online at https://quizlet.com/_4c0uqz
1. Epigenetics: heritable alterations that are not due to changes in DNA sequence
2. epigenetic modifications, or "tags," such as DNA methylation and histone
modification: alter DNA accessibility and chromatin structure, thereby regulating patterns of gene expression.
3. histone modifications: A histone modification is a covalent post-translational modification (PTM) to
histone proteins which includes methylation, phosphorylation, acetylation, ubiquitylation, and sumoylation. The PTMs
made to histones can impact gene expression by altering chromatin structure or recruiting histone modifiers. Histone
proteins act to package DNA, which wraps around the eight histones, into chromosomes. Histone modifications
act in diverse biological processes such as transcriptional activation/inactivation, chromosome packaging, and DNA
damage/repair. Quantitative detection of various histone modifications would provide useful information for a better
understanding of epigenetic regulation of cellular processes and the development of histone modifying enzyme-tar-
geted drugs.
4. Prader-Willi syndrome: Prader-Willi syndrome is a complex genetic condition that affects many parts of
the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth,
and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to
chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity,
also develop type 2 diabetes (the most common form of diabetes)
5. Angelman syndrome: Angelman syndrome is a complex genetic disorder that primarily affects the nervous
system. Characteristic features of this condition include delayed development, intellectual disability, severe speech
impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures
(epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12
months, and other common signs and symptoms usually appear in early childhood.
6. Prader-Willi Syndrome vs. Angelman syndrome: Prader-Willi syndrome (PWS) and Angel-
man syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have
characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities.
However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral
and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insuffi-
ciency. Both disorders can result from microdeletion, uniparental disomy, or an imprinting center defect in 15q11-q13,
although the abnormality is on the paternally derived chromosome 15 for PWS and the maternally derived 15 for
AS because of genomic imprinting. Although the same gene may control imprinting for both disorders, the gene(s)
causing their phenotypes differ. AS results from underexpression of a single gene, UBE3A, which codes for E6-AP, a
protein that functions to transfer small ubiquitin molecules to certain target proteins, to enable their degradation. The
genes responsible for PWS are not determined, although several maternally imprinted genes in 15q11-q13 are known.
1/6
, NR507 Midterm
Study online at https://quizlet.com/_4c0uqz
The most likely candidate is SNRPN, which codes for a small nuclear ribonucleoprotein, a ribosome-associated protein
that controls gene splicing and thus synthesis of critical proteins in the brain. Animal models exist for both disorders.
The genetic relationship between PWS and AS makes them unique and potentially highly instructive disorders that
contribute substantially to the population burden of cognitive impairment.
7. When do circulating erythrocytes play a major role in delivering oxygen to the
tissues: The after two weeks of gestation
8. When does the production of erythrocytes shift from the vessels to deliver
sinusoids?: At approximately the eighth week of gestation the site shifts from the vessels to deliver sinusoidal. The
production of leukocytes and platelets begin in the liver and spleen. Erythropoiesis in the liver and in the spleen and
lymph nodes, reaches a peak at approximately four months.
9. Hematopoiesis begins to occur in the bone marrow in the fifth month increas-
es rapidly until red marrow fills _________________________: Entire bone marrow space.
10. By the time of delivery, the _________________ is the only significant site of
hematopoiesis: Marrow
11. hematopoetic marrow bills the bony cavities of the entire axial skeleton and
many intra-membranous bones in what age group?: Neonates and young infants
12. Fatty (yellow) marrow gradually replaces hematopoetc _________________: Mar-
row
13. Lymphocytes of children have more_____________ and less____________ than do
the lymphocytes of adult: Cytoplasm; compact nuclearchromatin
14. Infectivity: Ability of the pathogen to establish an infection.
The pathogen capacity or horizontal transmission not in a parent-child relationship.
Well will
15. Analytic disease of the newborn: Antigenic properties of erythrocytes are determined genetically..
This recites that express Rh antigen D are Rh positive, those that do not are Rh negative.
16. Frequency of Rh negativity is higher in whites than in___________________: Blacks
and is rare in Asians.
17. Erythroblastosis fetalis: Erythroblasts released into the bloodstream of the fetus.
18. Effective treatment of HIV: Anti-- retroviral therapy
combination of three or more drugs
combination therapy is the most effective treatment for HIV
2/6
