How Do Mutations Affect Health and Tooth Development?

Question 1

Which enamel protein digests other enamel proteins during the maturation stage by facilitating their removal and hardening the final layer of enamel?

Answer 1

Kallikrin 4

Question 2

Dentinogensis imperfecta and amelogenesis imperfecta are ____ disorders.

Answer 2

tooth development

Question 3

What does a mutation in the AXIN2 gene result in?

Answer 3

tooth agenesis (oligodontia) and a predisposition to colorectal cancer

Question 4

What happens if amelogenin is not removed by Mmp-20?

Answer 4

the resulting hydroxyapatite crystal will not be as stable or rigid

Question 5

The proteins in a ___ mutation can gain some type of function or lose control of a regulatory element.

Answer 5

gain-of-function

Question 6

What enamel proteins and genes can give rise to amelogenesis imperfect?

Answer 6

any of them

Question 7

Pierre-Robin, Treacher Collins, and Marfan syndromes are all ___ syndromes.

Answer 7

malocclusion

Question 8

What is indicative of an autosomal dominant trait?

Answer 8

• 50:50 males and females
• 50% affected, 50% unaffected
• transmission between males and females

Question 9

WDR72’s absence doesn’t allow for what?

Answer 9

regulation of enamel mineralization

Question 10

The dimerization of a mutated gene with the same wild-type gene type is called a ___.

Answer 10

dominant negative mutation

Question 11

Sclerosteosis and van Buschem’s, high bone mass and OPPG, and Paget’s disease are all ____ traits.

Answer 11

bone mass

Question 12

The LRP5 bone mass mutation is a good example of a ___ mutation.

Answer 12

gain-of-function

Question 13

What kind of trait is almost always associated with consanguineous mating?

Answer 13

autosomal homozygous recessive trait

Question 14

Genetic diseases of the _____ are collectively the most common of the genetic disorders.

Answer 14

craniofacial skeleton and dentition

Question 15

What happens when Mmp-20 is deficient?

Answer 15

amelogenin cannot be removed by Mmp-20 and the resulting hydroxyapatite crystal of enamel cannot be exposed

Question 16

___ is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental abnormalities from the RUNX2 gene.

Answer 16

Cleidocranial dysplasia

Question 17

What enamel protein stabilizes the amorphous Ca-P phase, controls apatite crystal morphology and organization, and controls enamel thickness?

Answer 17

amelogenin

Question 18

This matrix extracellular phosphoglycoprotein contains an RDG motif and appears to be an inhibitor of mineralization in bone.

Answer 18

MEPE

Question 19

What mutated proteins can give rise to oligodontia?

Answer 19

LRP5 and 6
Keratin 17
AXIN2

Question 20

Haploinsufficiency and dominant negative are examples of ___ mutations.

Answer 20

loss-of-function

Question 21

What gene is a master regulator of osteoblastogenesis and bone formation?

Answer 21

RUNX2

Question 22

Which is milder? Dentinogenesis imperfecta or dentin dysplasia?

Answer 22

dentin dysplasia

Question 23

These enamel proteins have the ability to self-assemble into nanospheres and guide hydroxyapatite crystal formation and growth.

Answer 23

amelogenin

Question 24

Type __ dentinogenesis imperfecta occurs in people who have osteogenesis imperfecta. The primary teeth tend to be more affected.

Answer 24

I

Question 25

This type of mutation has a gene product that causes adverse effects (acts like an antagonist) on the normal wild-type gene product within the cell.

Answer 25

dominant negative

Question 26

Dentinogenesis imperfecta is caused by mutations in ___ and ___.

Answer 26

type I collagen; dentin sialophosphoprotein (DSPP)

Question 27

____ diseases occur when the issue occurs without any co-morbidities.

Answer 27

Non-syndromic

Question 28

Which dentin extracellular matrix model facilitates hydroxyapatite binding and contains an RGD motif and mineralization inhibitor?

Answer 28

osteopontin

Question 29

What degrades amelogenin?

Answer 29

Mmp-20

Question 30

____ is produced by odontoblasts and early-stage osteocytes.

Answer 30

dentin matrix protein 1 (DMP1)

Question 31

___ is a cell adhesion protein that controls cell differentiation and maintains rod integrity.

Answer 31

ameloblastin

Question 32

Crouson, Apert, Pfeiffer, and clefting syndromes are all ___ syndromes.

Answer 32

craniofacial malformation

Question 33

Is amelogenin encoded by genes on both the X and Y chromosomes?

Answer 33

YES

Question 34

Teeth affected by ___ are unusually small, pitted, and prone to rapid wear and breakage.

Answer 34

amelogenesis imperfecta

Question 35

In a ____ mutation, the increased function of proteins results in dysfunction.

Answer 35

gain-of-function

Question 36

____ are immediately cleaved after secretion into the dentin.

Answer 36

dentin sialophosphoproteins

Question 37

Affected children resulting from consanguinity in a family is an indicator of what?

Answer 37

recessive trait disease

Question 38

What are some syndromic-associated supernumerary dentition diseases?

Answer 38

Cleidocranial dysplasia Gardner's syndrome Trichorhino phalangic syndrome Cleft lip and palate

Question 39

Can amelogenesis imperfecta affect both deciduous and permanent dentition?

Answer 39

YES

Question 40

Type __ dentinogenesis imperfecta occur in people without other inherited disorders.

Answer 40

II or III

Question 41

____ diseases occur when you have another disease that ends up affected the dentition.

Answer 41

Syndromic

Question 42

Which dentin extracellular matrix molecule has a role in biomineralization?

Answer 42

bone sialoprotein

Question 43

In what type of dysfunction results in the reduced gene dosage not being sufficient?

Answer 43

haploinsufficiency

Question 44

___ cleaves amelogenin, ameloblastin, and enamelin at the secretory stage to produce stable intermediates with defined functions.

Answer 44

Mmp-20

Question 45

Which enamel protein cooperates with amelogenin to control mineral nucleation and elongated growth?

Answer 45

enamelin

Question 46

Is it rare to have multiple impacted teeth?

Answer 46

yes

Question 47

What is the condition called when a patient is genetically missing teeth?

Answer 47

tooth agenesis

Question 48

In a ____ mutation, a protein's absence results in the dysfunction or reduced function of the protein's functions.

Answer 48

loss-of-function

Question 49

In Type __ dentinogenesis imperfecta the dentin is extremely thin with a large pulp chamber and are often referred to as "shell teeth."

Answer 49

III

Question 50

___ is important in regulating the Wnt/B-catenin signaling pathway.

Answer 50

AXIN2

Question 51

What material is primarily found in dentin?

Answer 51

Type I collagen