BMF 2 TEST 1 whole

antral follicle

The stage after the primary follicle with the crescent moon shaped antrum caused by the coalescence of fluid-filled spaces between the granulosa.

For the blastocyst, the _____cells are the type of cells that will interact with the uterine epithelium for implantation.

Trophoblast

What constitutes the structure of the histone core

Two copies each of H2a, H2b, H3, H4 in an octamer ~Ch2 Thompson and Thompson

Genomic imprinting

When Characteristics are differentially expressed depending upon whether the genetic material is inherited from the mother or the father

Transcription factor

a protein that after activation via transduction or being generated by a regulatory gene, controls transcription of DNA to messenger RNA, by binding to a specific DNA sequence.

In Spermatogenesis, male meiosis is initiated when?

continuously throughout the adult life of a male. ~Ch2 Thompson and Thompson

Granulosa cells surrounding the oocyte remain intact and form the _____.

cumulus oophorus

In Oogenesis, Female meiosis is initiated when?

early during fetal life ~Ch2 Thompson and Thompson

In Oogenesis, Female meiosis is initiated in _____ cells?

in a limited number of cells. ~Ch2 Thompson and Thompson

In Spermatogenesis, male meiosis is initiated in ____ cells from _____?

in many cells from a dividing cell population ~Ch2 Thompson and Thompson

Condensed chromosomes of a dividing human cell are most readily analyzed at _____ or ______ via _______

metaphase or prometaphase Karyotype ~Ch2 Thompson and Thompson

nondisjunction during mitosis (mitotic nondisjunction) in an embryonic cell during the earliest cell divisions produces the condition:

mosaicism ~Ch2 medical embryology

Nucelotide

repeating monomers in DNA and RNA; consist of a phosphate ester, pentose (5C) sugar, and a heterocyclic (nitrogenous) base

After formation of the secondary yolk sac it detaches from the _____, forming the exoceolemic cavity or cyst

"outer" extraembryonic mesoderm

Angelman syndrome is caused by ___. The children's symptoms are ____.

- microdeletion or contiguous deletion on the maternal chromosome -intellectual disability, cannot speak, exhibit poor motor development, and are prone to unprovoked and prolonged periods of laughter

Difference between a nucleotide and nucleoside?

- phosphate groups, where the nucleotide have between 1-3 phosphate groups attached to them, and the nucleoside have none

The first polar body lies between the ____ and the _____ of the secondary oocyte in the perivitelline space

- zona pellucida -cell membrane

Translocations are particularly common between chromosomes ____(5)____ because____.

-13, 14, 15, 21, and 22 -they cluster during meiosis ~Ch2 medical embryology

G quartet or tetraplex consists of _____ H-bonded together. G's In the single strand overhang of human telomeres are found to arrange in a ______, which can further arrange into a ______. G- quadruplexes can prevent _____activity in telomeres, which is currently used to fight cancer.

-4 G's -tetraplex -G quadruplex -telomerase

Turner syndrome, with a _____karyotype, is the only monosomy compatible with ____. ___% of all fetuses with the syndrome are spontaneously aborted. They are _____ in appearance, and are characterized by the ___(2)___. Other common associated abnormalities: _____. Approximately ___% of affected females are monosomic for the X and ____negative because of nondisjunction. In 80% of these females, nondisjunction in ____ is the cause. In the remainder of females, ____ or ____ are the causes.

-45, X -life -98 -female -absence of ovaries (gonadal dysgenesis) and short stature -webbed neck, lymphedema of the extremities, skeletal deformities, and a broad chest with widely spaced nipples. -55 -chromatin body -male gametes -structural abnormalities of the X chromosome -mitotic nondisjunction resulting in mosaicism

What are LINES? What percentage of genome are they?

-Class of retrotransposons (transposable) - 20

Trophoblasts proliferate into inner_____ and multinucleated____ to for implantation at 7 days

-Cytotrophoblast -Syncytiotrophoblast

Fragil X syndrome is cause by numerous fragile sites in the ____ gene on the _____. _____ repeats occur in the promoter region of the gene in affected individuals compared to ______ repeats in normal subjects. Fragile X syndrome is characterized by _____. It occurs in ____ individuals. Because it is a(n) ______ condition, males are affected almost exclusively. Fragile X syndrome is second only to ____ as a cause of intellectual disability due to genetic abnormalities.

-FMRI gene -long arm of the X chromosome (Xq27) - >200 -6 to 54 -intellectual disability, large ears, prominent jaw, and large testes -1 per 5000 -X-linked -Down syndrome

contiguous gene syndromes that can be inherited from either parent are ____(2)_____

-Miller-Dieker syndrome (lissencephaly, developmental delay, seizures, and cardiac and facial abnormalities resulting from a deletion at 17p13) -most cases of 22q11 syndrome (palatal defects, conotruncal heart defects, speech delay, learning disorders, and schizophrenia-like disorder resulting from a deletion in 22q11).

A typical Eukaryotic promotor (DNA):_____ Recognized by ______

-The TATA box -RNA Polymerase II

One example of unbalanced translocation is a condition known as ____ and the specifics are that the _____ arms of chromosomes ___ and ___ are involved, resulting in ______.

-Trisomy 21 -long arms -14 -21 -an extra copy of 21 ~Ch2 medical embryology

What are the two nucleotides that are exclusive to DNA or RNA, and which are they exclusive to?

-Uracil = RNA -Thymine= DNA

Of the three phosphate groups that can be bonded to biologically important nucleotides, the one bonded to the sugar is the _____ C, then ____, then _____. Although the __'C is the most common place for bonding a phosphate group, it can also be bonded at the ___' and ___' carbons

-alpha -beta -gamma -5' -2' -3'

Many antiviral drugs are analogs of ______. Zidovudine is an analog of ____. Other examples are ____ and _____

-dNTP's (deoxynucleoside triphosphates) -thymidine -dideoxyinosine (ddI) -zalcitabine (ddC)

The role of the decidual cells is to ____ near the Syncytiotrophoblast and ____.

-degenerate -coat the embryo with energy (glycogen, etc)

A- DNA Is observed when DNA is _____, or in ______ hybrid, or in _____helixes

-dehydrated -DNA-RNA -RNA-RNA

Fragile sites are regions of chromosomes that _____. They are typically rich in ______

-demonstrate a propensity to separate or break under certain cell manipulations. -CGG repeats

IN alkaline solution DNA is ____ but strands are ______, while RNA ______

-denatured -in-tact -degrades to nucleotides

Difference between DNA and RNA sugar is that the DNA is called _______sugar because it is missing _____ at the ____' carbon, while the RNA sugar is called ______ because it has the ____ group.

-deoxyribose -OH group -2' -ribose -OH

A special characteristic of the nucleotides are that they can be used for ______ such as ATP and GTP, as ______ as in cAMP, and cGMP, and as ______ such as in Coenzyme A.

-energy -second messengers -cofactors for enzymatic reactions

PGCs are formed in the ______ during the second week, move through the primitive streak during _____, and migrate to the wall of the _____.

-epiblast -gastrulation -Yolk sac

In nucleosides, a base is bound to a ribose or deoxyribose by a _____ bond. It is formed between the ____ carbon of the sugar, and either the _____ for purines, or the _____for pyrimidines

-glycosidic -C-1 -N-9 -N-1

In Mosaisicm some cells ____ and others _____. Affected individuals may exhibit ____ of a particular syndrome, depending on ___.

-have abnormal chromosome number -Are normal -few or many of the characteristics -How many cells involved, and their distribution. ~Ch2 medical embryology

Denaturation of dsDNA causes an ____ of absorbance at _____nm

-increase -260

Z-DNA is ____ handed, Has ___bp, and is ____nm. It also has _______conformation.

-left -12 bp -1.8 -c2 endo for pyrimidines and c3 endo for purines

In an unbalance translocation, one part of a chromosome is _____, and a(n) _____ phenotype is produced.

-lost -altered ~Ch2 medical embryology

Klinefelter syndrome is found only in ______ and usually detected by_____. Symptoms are ____. The cells have a sex chromosomal complement of the ____ type. A ____ is found in 80% of cases. Incidence is approximately ____. Most common cause is ____. The more X chromosomes there are, the more likely there will be some degree of ____.

-males -amniocentesis -sterility, testicular atrophy, hyalinization of the seminiferous tubules, and usually gynecomastia -XXY -sex chromatin (Barr) body -1 in 500 males -Nondisjunction of the XX homologues -cognitive impairment

Prader-Willi syndrome is caused by _____. Affected individuals are characterized by

-microdeletion or contiguous deletion on the paternal chromosome -hypotonia, obesity, intellectual disability, hypogonadism, and undescended testes

Cri-du-chat syndrome is caused by ____. Affected infants have____.

-partial deletion of the short arm of chromosome 5 -a cat-like cry, microcephaly (small head), intellectual disability, and congenital heart disease

Exonucleases cleave _____bonds at the last nucleotide at _____, while endonucleases do this at the _______

-phosphodiester -either terminus -interior of a chain

The formation of______ in telomeres have been found to prevent telomerase activity. Important for potential _____ treatment.

-quadruplexes -cancer

B-DNA is ____ handed, Has ___bp, and is ____nm. It also has _______conformation.

-right -10.5 -2 -c2 endodeoxyribose pucker conformation

A-DNA is ____ handed, Has ___bp, and is ____nm. It also has _______conformation.

-right -11 -2.3 -C-3 endodeoxyribose pucker conformation

What are the 6 abnormal implantation sites (Miller)

1. Abdominal cavity (1.4%) or anywhere there is mesentary 2. Ampullary region of the uterine tube (80%) 3. Uterine tube (12%) 4. Interstitial implantation (narrow part of uterine tube) (0.2%) 5. Internal os of uterus (0.2%) 6. Ovarian implantation (0.2%)

Follicular cells: 1. What are the type and shape 2. Where do they originate from

1. flat epithelial cells 2. originate from surface epithelium covering the ovary.

Only ___% of the millions of bp in the human genome actually codes for proteins

1.5% ~Ch2 Thompson and Thompson

The chorionic cavity begins to form at approximately ___(time)___

12 days

Chromosomes that are acrocentic

13, 14, 15, 21, 22

Alu repetitive DNA segments' characteristics: ____ bp in length and compose ~ ___% of human genome. These are rich in ______ elements

300 10% G-C ~Ch2 Thompson and Thompson

In DNA replication, things are read in the ____to ____ direction, while they are made in the ____ to ____ direction

5' to 3' 3' to 5' ~Ch2 Thompson and Thompson

The combination of the histone core alone with the DNA wound around it twice is called

A nucleosome ~Ch2 Thompson and Thompson

Z-DNA is observed in _______

Alternating C tracts

Dispersed repetitive DNA segments that have been highly studied and implicate genetic diseases

Alu and LINE ~Ch2 Thompson and Thompson

During the lacunar stage, the epiblast cells migrate and Form ______ that attach to _____ cells

Amnioblasts Ctotrophoblast

Primary ovarian follicle

An immature follicle consisting of an oocyte surrounded by a single layer of tall, supporting granulosa cells.

______ Is the overall average form of DNA

B-DNA

AIRE (Autoimmune Regulator) is a transaction factor for ____(3)__, which cause stromal cells to become decidual cells

BONEmp 2 and 4 (bone morphogenetic protein), HOXa10 (hoemobox A 10), and insulin-like growth factor binding protein 1

At 7 days, the ______ attaches to the uterine wall

Blastocyst

What is placenta Previa caused by and what is it's occurrence?

Cause by implantation in the internal os of the uterus, and occurs in 0.2% of pregnancies

During chorionic cavity expansion, after the stalk is formed, cytotrophoblast and underlying chorionic plate begin to develop ______

Chorionic villi

Human corionic Gonadotrophin release by the Syncytiotrophoblast stimulates The ____ to release _____ and _____, maintaining the endometrium. At ___(time)__ there is enough hCG for a pregnancy test.

Corpus Luteum Progesterone Estrogen 14 days

Once the Syncytiotrophoblast invade the endometrial tissues, the ______ cells undergo apoptosis to facilitate ________

Endometrial Implantation

In the lacunar stage, a space forms between the ____ and _____, resulting in the amniotic cavity, while the _____ cells migrate and Line the blasocyts cavity, forming the_____ membrane

Epiblast Amnioblasts Hypoblasts exocoelemic

In the lacunar stage, the inner cell mass divides into two layers:

Epiblast (Embryonic pole) near plantation Hypoblast (aembryonic pole) away from the side

The role of the Syncytiotrophoblasts is to

Erode into the endometrium and maternal blood vessels (invading the uterine wall)

Once the blastocyst cavity is lined with the hypoblasts cells, it is called the _______ or _______

Exocoelemic membrane Primitive yolk sac

Features of children with Down syndrome include : _____. They also have an increased risk of ____.

Features: growth retardation; varying degrees of intellectual disability; craniofacial abnormalities, including upward slanting eyes, epicanthal folds (extra skin folds at the medial corners of the eyes), flat facies, and small ears; cardiac defects; and hypotonia; Increased risks: increased chance of developing leukemia, infections, thyroid dysfunction, premature aging; earlier onset of Alzheimer's

trisomy 18 features:____. The incidence of this condition is ____. _____percent are lost between 10 weeks of gestation and term; those born alive usually die____.

Features: intellectual disability, congenital heart defects, low-set ears, flexion of fingers and hands with absence or hypoplasia of the radius and ulna; micrognathia (deficient mandible), renal anomalies, syndactyly, malformations of the skeletal system Incidence: 1 in 5000 newborns Prognosis of death -by 2 months of age

Trisomy 13 features: _____. Incidence is approximately ____ live births, and more than ____of the infants die in the first month after birth.

Features: intellectual disability, holoprosencephaly, congenital heart defects, deafness, cleft lip and palate, eye defects such as microphthalmia, anophthalmia, and coloboma. -1 in 20,000 live births - 90%

Four different Growth Differentiation Factors (Miller)

Fibroblast GF WNT (Droshopilla: wingless + Mouse: int1) Hedgehog Transforming Growth factor Beta (TGF-B)

Melting temperature of DNA is the temp at which _____

Half of the double helical structure is lost

The epiblast layer is made up of ____ cells, while the hypobast layer is made up of ____ Cells

High columnar epithelial cells Small cuboidal cells

THE DEOXYRIBOSE PHOSPHATE BACKBONES OF THE DNA STRANDS ARE (HYDROPHOBIC OR HYDROPHILIC?)

Hydrophillic

The bases of DNA are (hydrophobic or hydrophillic?

Hydrophobic

During formation of the chorionic cavity, the ______ cells migrate along the exocoelemic cavity to form a smaller cavity called the _____

Hypoblast cells Definitive or secondary yolk sac

The _____ gives rise to the embryo, while the ______ will eventually give rise to the fetal portion of the embryo.

Inner cell mass or embryoblast, Trophoblast (Outer cell mass)

Adhesion to the endometrium induces the trophoblast to differentiate into two layers:

Inner cytotrophoblast (CT) and outer Syncytiotrophoblast (ST) layers

After implantation, the _____stage occurs

Lacunar

LINE segments stand for ______. They are ____ bp in length, compose ____% of human genome, and are rich in _____segments

Long Interspersed Nuclear Element 6 2% A-T ~Ch2 Thompson and Thompson

When the secondary follicle is mature, a surge in ______ induces the preovulatory growth phase.

Luteinizing Hormone

In formation of the chorionic cavity, the Epiblast and hypoblast epithelial cells give rise to _____Cells. This is known as _______. These Mesenchymal cells then migrate and form the ____.

Mesenchymal cells Epithelial to Mesenchymal transformation extraembryonic membrane.

The villus capillary system is formed in the ____ week, when the _____ cells in the villus core differentiate into ___ and ____. At this point the villus is now a

Mesodermal cells Small blood vessels and blood cells Tertiary villus or diffinitive placental villus

Cell cycle order of events

Mitosis (M) = division/duplication, G1= no DNA synthesis, S= Synthesis/ replication (sister chromatids made) G2= growth (potential doubling of mass) ~Ch2 Thompson and Thompson

In Oogenesis, Female meiosis is initiated how many times?

Once ~Ch2 Thompson and Thompson

Stages of Mitosis

PPMAT P= prophase (condensation of chromosomes, formation of mitotic spindle and a pair of centrosomes) P= prometaphase (nuclear membrane dissolves, chromosomes disperse within the cell and attach by kinetochores, to microtubules of the mitotic spindle.) M= metaphase (chromosomes are maximally condensed and line up at the equatorial plane) A= anaphase (chromosomes separate at centromere, sister chromatids become independent daughter chromosomes and move to opposite poles) T= telophase (chromosomes decondense from highly contracted state, nuclear membrane re-forms around each of the two daughter nuclei, cytoplasm cleaves via cytokinesis) ~Ch2 Thompson and Thompson

Usual implantation site

Posterior wall of uterus

During chorionic cavity expansion, a connecting stalk, or _____, of _______ attaches the embryo to the ______ plate

Primitive umbilical chord Extraembryonic mesoderm Chorionic plate

The Syncytiotrophoblast erodes the maternal blood vessels during implantation, creating the ______circulation. This allows the release of _____ by the Syncytiotrophoblast.

Primitive uterine-placental circulation HCG (human chorionic gonadotrophin)

Gametes are derived from

Primordial germ cells (PGC's)

What is the function of the H1 histone

Sits on the edge of the histone octamer and binds DNA to it Aka internucleosomal spacer region ~Ch2 Thompson and Thompson

The bases of DNA avoid contact with water by _____ between the deoxyribose phosphate backbones of the strands

Stacking

Cytotrophoblasts fuse to form ______

Syncytiotropholasts

What are satellite DNA?

Tandemly repeating segments of Non-coding DNA ~Ch2 Thompson and Thompson

Once the Syncytiotrophoblast invades the endometrium it secretes ______, causing the endometrial glandular epithelium to secretes _____, which facilitates further continued implantation

The cytokine Interleukin 1 LIF (leukaemia inhibitory factor)