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 Wolfgang Marks: The Aetiology of Neuronal Ceroid Lipofuscinosis

 

NCL-Correlated Proteins:
Geneloci - Isoforms - Expression-data.
01

Processes and mechanisms leading to synthesis of a cellspecific messenger-RNA I have described in detail in “Die formatierte DNA”. According to this work the basis of any coordinated activation of genes is set up by the formatting of distinct chromatin domains in phase with a homogenous spacing. Only genes being located in domains, which are formatted with same spacing, can be regulated in common and activated in a coordinated and synchronized manner. (To get more information about this revolutionary, convincing global theory of gene expression in humans look here.)

Preliminary remarks related to the following tables:
Defining a distinct number of isoforms for a protein does not mean this number being identic with the number of transcripts being generated for the specific protein. For MTTDC (16 isoforms postulated) by example likely exist around 50 different transcripts, which will be expressed during different periods of ontogenesis in different cells. With other words: a protein consisting of a distinct polypeptidchain may have been generated from two or more different transcripts, them only differring in the length of the 5’ and/or 3’ noncoding areas. Vice versa this also means, that the number of transcripts must not be identic with the number of different proteins, encoded by the specific gene.

The expression periods defined below for distinct isoforms of a protein therefore only show the timeframe, within which a specific isoform will be generated in various cells at varying times. Related to a specific cell or group of cells the actual time of expression within this timeframe therefore may be shorter or longer.  That is to say: a distinct transcript sometimes may be generated at different times in also different cells. To show all these relations in the scope of this work is not possible, even though I would be able to show expression times for any specific isoform and cell.

The term “oligodendroglia” mentioned in the following tables refers to a group of specialised cells, which resemble each other - even they are according to my evaluations descended from a common stem cell - not very much in their form and appearance and still less in relation to their function. One of these cells is the oligodendrocyte, which is building the myelin sheath of the neuronal axon in the central nervous system of higher vertebrates (brain and spinal cord) - a function, which is performed by Schwann cells in the peripheral nervous system.

The other one is not very well evaluated and its function is in large parts unclear. The so called “satellite oligodendrocytes” - sometimes also named astrocytes - are always found in the neighbourhood of neurons, to which they have a lot of contacts via their cellular branches. I postulate satellite oligodendrocytes to have a function similar to nurse cells - they help regulate the content of natrium and calcium ions of their linked neurons, supply them with glykogen in case of high consumption and may also deliver neurotransmitters like glutamate or acetylcholin if needed. They in this way form a kind of emergency troop, helping neurons to keep up their function and to survive in critical or stressing periods with lacking resources.

The tables are sorted by begin of expression of the distinct isoform.


Protein: multivalent terpene and terpenoid decyclase
16 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Formatting-
Hormone

Protein or pre-
cursor(s) coded on gene(s)

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

HPL
Isoform 1

CLN3
DHRS7

(progenitors of) astroglia, oligodendroglia, microglia, Schwann-cells, lymphocytes, muscle cells smooth and striated and others.

day 60 till
day 160

HPL
Isoform 2

DHRS7
USP10
CES7

as before

day 160 till
day 200

PROG
Isoform 3

CLN3 (339aa)
ENSP00000350457
CES7

astroglia, oligodendroglia, microglia, Schwann-cells, lymphocytes, muscle cells smooth and striated and others.

day 200
till birth

MSH-RH
Isoform 4

CLN3
CLN6

as before

from day 200 till end of life

THYM-b10
Isoform 5

NOMO2
DHRS7

as before

from birth till end of y5

TRH
Isoform 6

CLN3 (253aa)
ENSP00000349586
NOMO2

as before

from birth till begin of puberty

GH-RH
Isoform 7

CES7
NOMO2

as before

from birth till begin of puberty

PROG
Isoform 8

CLN3
GPC6
CES7

as before

from birth till end of puberty

CRH
Isoform 9

CLN3
CLN8

see diagram for gene CLN8

from birth till end of puberty

GH-RH
Isoform 10

CLN3 (438aa)
ENSP00000353073

as before

from birth till adult (~y21)

GH-RH
Isoform 11

CLN3 (421aa)
ENSP00000346650

as before

from birth till adult (~y21)

MSH-RH
Isoform 12

CLN3 (438aa)
ENSP00000350523

as before

from birth
till adult (~y21)

GH-RH
Isoform 13

CLN3
NOMO2

as before

from end of y5 till ~year 35

Gn-RH
Isoform 14

USP10
SERPINB11

as before

from end of y5 till adult (~y21)

Gn-RH
Isoform 15

CLN3 (438aa)
ENSP00000353116

as before

from end of y5 till adult (~y21)

GH-RH
Isoform 16

CLN3
CLN6

as before

during puberty

THYM-b10 = Thymosin beta 10
PROG = Progesterone
TPO = Thymopoetin
MET-ENK = Methionine-Encephalin; LEU-ENK= Leucine-Encephalin
All above listed hormones are Formatting-Hormones postulated by the author
(see:
Die Formatierte DNA)



Protein: Palmitoyl-Protein-Thioesterase
16 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Releasing-
Hormone

Protein or pre-
cursor(s) coded on gene-loci

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

HPL
isoform 1

CLN3
CLN1
CES7

(progenitors of) Bipolar-, Müller-, amacrine-, cone-cells, neurons, retinal ganglion cells, muscle cells smooth and striated, oligodendroglia, microglia (Hortega-cells), lymphocytes and specific cells of kidneys, liver and the gastrointestinal tract.

from day 110
till birth

HPL
isoform 2

CLN6
NOMO2

as before

from day 160 till day 200

TRH
isoform 3

CLN8
USP10

Bipolar-, Müller-, amacrine-, cone-cells, neurons, retinal ganglion cells, muscle cells smooth and striated, oligodendroglia, microglia (Hortega-cells), lymphocytes and specific cells of kidneys, liver and the gastrointestinal tract.

from day 200 till birth

TRH
isoform 4

CES7
NOMO2

as before

from day 200 till begin of adultness

CRH
isoform 5

CLN1
NOMO2

as before

from birth till
end of y5

CRH
isoform 6

CLN1/PPT1
ENSP00000394863

as before

from birth till
~year 35

Gn-RH
isoform 7

CLN8
CLN3

as before

end of y5 till end of puberty

Gn-RH
isoform 8

ARSG
USP10
CLN3

as before

from birth till begin of adultness

CRH
isoform 9

CLN8
CES7

as before

end of y5 till
begin of adultness

Gn-RH
isoform 10

USP10
FAM117A

as before

during puberty

GH-RH
isoform 11

CLN8
CLN5

as before

during puberty

GH-RH
isoform 12

CLN1
CES7
NOMO2

as before

from begin of puberty till begin of adultness

Gn-RH
isoform 13

CLN5 (407aa)
ENSP00000366673

as before

from begin of puberty till begin of adultness

Gn-RH
isoform 14

DHRS7
CLN1

as before

from begin of puberty till ~y35

Gn-RH
isoform 15

CLN1
GPC6

as before

from begin of puberty till end of life

GH-RH
isoform 16

CLN2
ENSP00000412783
CES7

as before

from begin of adultness till end of life

PROG = Progesterone
MET-ENK = Methionine-Encephalin
LEU-ENK = Leucine-Encephalin
All above listed hormones are Formatting-Hormones postulated by the author
(see:
Die Formatierte DNA)


Protein: acetoin - racemase
12 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Releasing- Hormone

Protein or pre-
cursors coded on gene-loci

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

PGF2a
Isoform 1

NOMO2
CES7

(progenitors of) microglia, astrocyts,oligo- dendroglia, muscle smooth and striated, neurons multipolar (retina) and others.

day 6 till end of embryogenesis

HPL
Isoform 2

CLN3
DHRS7

as before

end of embryo-
genesis
till
day 110

PROG
Isoform 3

NOMO2
USP10

as before

from day 110 till day 160

PROG
Isoform 4

CTSD
CTSL1

microglia, astrocyts, oligodendroglia, muscle smooth and striated, neurons multipolar (retina) and others

from day 160 till day 200

TRH
Isoform 5

NOMO2
CES7

as before

from day 200 till birth

CRH
Isoform 6

USP10
SERPIN B11

as before

from birth till
end of y7

Gn-RH
Isoform 7

CLN3
CTSF

as before

from birth till end of puberty

MSH-RH
Isoform 8

CLN8
USP10

as before

from birth till reaching adultness

GH-RH
Isoform 9

CLN6 (311aa)
ENSP00000249806

see rel. chapter.

from birth till
end of life

GH-RH
Isoform 10

CLN8 (286aa)
ENSP00000328182

see rel. chapter.

begin of puberty till reaching adultness

Gn-RH
Isoform 11

CLN3
CLN8

as before

begin of puberty till reaching adultness

MSH-RH
Isoform 12

CLN3
GPC6

as before

begin of puberty till end of life

PROG = Progesterone
THYM-b10 = Thymosin beta 10
MET-ENK = Methionine-Encephalin
LEU-ENK = Leucine-Encephalin
ß-END= beta Endorphine
All above listed hormones are Formatting -Hormones postulated by the author
(see:
Die Formatierte DNA)


Protein: tripeptidyl-peptidase
16 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Releasing-
Hormone

Protein or pre-
cursor(s) coded on gene-loci

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

ESTRIOL
Isoform 1

CLN3
CTSF

(Progenitors of) Müller-, bipolar-, amacrine-, cone cells, fibroblasts, neurons, muscle smooth/striated, oligodendroglia, microglia, astroglia, lymphocytes and oth.

day 110 till
day 160

PROG
Isoform 2

CLN3
CLN6

as before

day 160 till
day 200

CRH
Isoform 3

CLN3
CTSD

Müller-, bipolar-, amacrine-, cone cells, fibroblasts, neurons, muscle smooth/ striated, oligodendroglia, microglia, astroglia, lymphocytes and oth.

day 200
till birth

CRH
Isoform 4

DHRS7
SERPINB11

as before

birth till begin of puberty

GH-RH
Isoform 5

CLN8
USP10

as before

birth till begin of puberty

MSH-RH
Isoform 6

CLN8
CES7

as before

birth till end of puberty

MSH-RH
Isoform 7

CLN2 (TPP1)

as before

birth till begin
of adultness

MSH-RH
Isoform 8

CLN3
CLN6

as before

from end of y5 till begin of puberty

MSH-RH
Isoform 9

CLN3
CTSD
NOMO2

as before

from end of y5 till begin of adultness

MSH-RH
Isoform 10

CLN3
DHRS7
CLN6

as before

from end of y5 till begin of adultness

MSH-RH
Isoform 11

CLN2
ENSP00000398136

as before

from end of y5 till begin of adultness

MSH-RH
Isoform 12

CLN2
ENSP00000395326
CLN6

as before

from end of y5 till ~y40

MSH-RH
Isoform 13

CLN2
ENSP00000369169

as before

during puberty

MSH-RH
Isoform 14

CLN3
CES7

as before

during puberty

MSH-RH
Isoform 15

CLN6
DHRS7
ARSG

as before

from begin of adultness on till end of life

MET-ENK
Isoform 16

NOMO2
GPC6

as before

from begin of adultness on till end of life

MET-ENK = Methionine-Encephalin
All above listed hormones are Formatting-Hormones postulated by the author
(see:
Die Formatierte DNA)


Protein: retinol-isomerase
12 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Releasing-
Hormone

Protein or pre-
cursor(s) coded on gene-loci

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

THYM-b10
Isoform 1

CLN6
DHRS7

(progenitors of) Retina Pigment-epithel cells, muscle cells smooth/striated, astroglia, motor-neurons, bipolar nerve-cells, Oligodendroglia,  microglia, fibroblasts, lymphoblasts and oth.

day 100 till
day 160

TRH
Isoform 2

CLN3
NOMO2
USP10

as before

day 160 till
day 200

TRH
Isoform 3

NOMO2
CES7
FAM117A

Retina Pigment-epithel cells, muscle cells smooth/striated, astroglia, motor-neurons, bipolar nerve-cells, Oligodendroglia,  microglia, fibroblasts, lymphoblasts and oth.

day 200 till
birth

CRH
Isoform 4

CLN3
DHRS7
CES7

as before

birth till
end of y5

Gn-RH
Isoform 5

CLN6
DHRS7

as before

birth till
end of y5

MSH-RH
Isoform 6

CLN3
USP10

as before

birth till
end of y5

MSH-RH
Isoform 7

USP10
FAM117A
CLN1

as before

end of y5
till begin of
puberty

MSH-RH
Isoform 8

CLN3
CES7

as before

end of y5 till begin of adultness

MSH-RH
Isoform 9

GPC6
CLN6

as before

end of y9
till begin of
puberty

MET-ENK
Isoform 10

USP10
CES7
FAM117A

as before

end of pub.
till ~y30

MET-ENK
Isoform 11

CLN6
NOMO2

as before

from ~y30
on

LEU-ENK
Isoform 12

USP10
NOMO2

as before

from ~y30
on

MET-ENK = Methionine-Encephalin
LEU-ENK = Leucine-Encephalin
All above listed hormones are Formatting-Hormones postulated by the author
(see:
Die Formatierte DNA)

01 All dates listed in tables for expression data are approximate values.


Protein: cathepsin D
10 postulated isoforms in total, all being encoded by the NCL-gene-network.
 

Inducing Releasing-
Hormone

Protein or pre-
cursor(s) coded on gene-loci

supposed to be expressed during ontogenesis in one or more of the following celltypes or varying combinations of these cells

Supposed to be expressed from-to (ca.)

GH-RH
Isoform 1

MFSD8
SERPINB11

(Progenitors of) radialglia, oligodendroglia, microglia, muscle cells smooth/striated, lymphocytes, fibrocytes, distinct cells of kidneys, liver and of the gastro-intestinal system

day 160 till
birth

TRH
Isoform 2

NOMO2
CLN6

as before

day 200 till
birth

GH-RH
Isoform 3

CTSD
DHRS7

radialglia, oligodendroglia, mikroglia, muscle cells smooth/striated, lymphocytes, fibrocytes, distinct cells of kidneys, liver and of the gastro-intestinal system

day 200 till
end of y5

Gn-RH
Isoform 4

CTSD
DHRS7

as before

day 200 till
end of y5

GH-RH
Isoform 5

CTSD
ENSP00000236671

as before

birth till
adultness

Gn-RH
Isoform 6

CLN6
CLN3

as before

birth till
end of life

Gn-RH
Isoform 7

CTSD
ENSP00000384947

as before

end of y5 till adultness

MSH-RH
Isoform 8

FAM117A
NOMO2

as before

end of y5 till adultness

GH-RH
Isoform 9

CTSD
CES7

as before

end of y5 till
end of life

Gn-RH
Isoform 10

CLN6
CLN3

as before

during puberty

MET-ENK = Methionine-Encephalin
LEU-ENK = Leucine-Encephalin
All above listed hormones are Formatting-Hormones postulated by the author
(see:
Die Formatierte DNA)

01 All dates listed in tables for expression data are approximate values.

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