Skip to main content

Table 1 Altered gene expression due to X chromosome monosomy

From: Epigenetics in Turner syndrome

Product

Primary function

Results in

DEAD (AspGlu-Ala-Asp) box helicase 3(DDX3)X/Y gene family

Involved in embryogenesis, spermatogenesis, cellular growth and division

No change in gene expression 45,X cells (17)

PRKX/Y

A protein kinase related to macrophage and granulocyte maturation.

No change in gene expression 45,X cells (17)

BMP2 (bone morphogenetic protein 2)

Bone metabolism

Downregulated (< 6-fold) in 45,X cells (17)

BMPER (BMP binding endothelial regulator)

A secreted protein that interacts with and inhibits BMPs function (bone metabolism)

Upregulated (> 5-fold) in 45,X cells (17)

SFRP1 (secreted frizzled-related protein 1)

Associated with Wnt signaling. Altered gene expression is associated with diminished osteoblast proliferation and differentiation

Downregulated (< 4-fold) in 45,X cells (17)

IGF-2 (insulin-like growth factor 2)

Related to regulation of carbohydrate metabolic process

Downregulated (< 22-fold) in 45,X cells (17)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Related to regulation of carbohydrate metabolic process

Downregulated (< 22-fold) in 45,X cells (17)

TRIB3 (tribbles pseudokinase 3)

Involved in insulin signaling

Upregulated (> 4-fold) in 45,X cells (17)

SLC2A14 (solute carrier family 2 member 14 (facilitated glucose transporter))

Glucose transporter (GLUT)

Upregulated (> 18-fold) in the 45,X cells (17)

SLC25A6 (solute carrier family 25 member 6)

A gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. Permeability transition pore complex (PTPC): regulates the release of mitochondrial products that induce apoptosis.

Downregulated (> 2-fold) in the 45,X cells (14)

CLDN11 (claudin 11)

Involved in spermatogenesis

Upregulated (> 18-fold) in the 45,X cells (17)

STC1 (stanniocalcin 1)

Paracrine regulation of follicular development

Downregulated (< 14-fold) in the 45,X cells (17)

RASD2 (RASD family, member 2)

Interfere with the functional activity of TSHR, FSHR, and LHCGR

Downregulated (< 5-fold) in the 45,X cells (17)

PRKX (protein kinase, X-linked)

A serine threonine protein kinase similar to the catalytic subunit of cyclic AMP dependent protein kinases. Involved in renal epithelial morphogenesis and in macrophage and granulocyte maturation. Deletion causes sex reversal disorder.

Downregulated (> 2-fold) in the 45,X cells (14) (11)

LANCL3 (LanC lantibiotic synthetase component C-like 3)

Signal transduction (inferred from biological aspects of ancestor)

Upregulated (> 1.67-fold) in 45,X cells (11)

RPS4X (ribosomal protein S4, X-linked)

A component of the 40S subunit

Downregulated (< 0.63-fold) in the 45,X cells (11)

ALAS2 (5′-aminolevulinate synthase 2)

An erythroid-specific mitochondrially located enzyme. It catalyzes the first step in the heme biosynthetic pathway.

Upregulated (> 2.19-fold) in 45,X cells (11)

GPR34 (G protein-coupled receptor 34)

An integral membrane protein. It mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response

Downregulated (< 0.59-fold) in the 45,X cells (11)

JPX transcript (XIST activator)

A nonprotein-coding RNA transcribed from a gene within the X-inactivation center. It participates in X chromosome inactivation by activating XIST on the inactive X chromosome

Downregulated (< 0.76-fold) in the 45,X cells (11)

EIF1AX (eukaryotic translation initiation factor 1A, X-linked)

An essential eukaryotic translation initiation factor. It is required for the binding of the 43S complex to the 5′ end of capped RNA

No change in gene expression 45,X cells (11)

ZFX (zinc finger protein, X-linked)

A transcriptional regulator for self-renewal of both stem cell types

No change in gene expression 45,X cells (11)

KDM6A (lysine demethylase 6A)

A tetratricopeptide repeat (TPR) protein. It catalyzes the demethylation of tri/dimethylated histone H3. Importance for reestablishment of pluripotency and germ cell development

Differentially methylated positions (11)

KDM5C (lysine demethylase 5C)

Involved in the regulation of transcription and chromatin remodeling

Differentially methylated positions (11)

USP9X (ubiquitin-specific peptidase 9, X-linked)

A protein similar to ubiquitin-specific proteases. Mutations may cause changes in the neuronal migration and axonal growth, resulting in intellectual disability

Differentially methylated positions (11)

UBA1 (ubiquitin-like modifier activating enzyme 1)

It catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. It also may function in DNA repair.

Differentially methylated positions (11)

STS (steroid sulfatase)

A multi-pass membrane protein that is localized to the endoplasmic reticulum and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI

Differentially methylated positions (11)