ERVFH21-1 (endogenous retrovirus group FH21 member 1)

2021-02-01   Luigi Cristiano 

R&D Division, Prestige, Terranuova Bracciolini, Italy prestige.infomed@gmail.com; luigicristiano@libero.it

Identity

HGNC
LOCATION
7p21.3
LOCUSID
ALIAS
HERV-F(XA34),HERV-F/H

Abstract

Endogenous retrovirus group FH21 member 1, alias ERVFH21-1, is an integrated retroviral element of the human genome. Still poorly characterized, it maps on Chromosome 7.

DNA/RNA

Note

Endogenous retrovirus group FH21 member 1 (ERVFH21-1), formerly HERV-F(XA34), is an integrated retroviral element of the human genome. It is known that human endogenous retroviruses (ERVs) and ERV-like sequences are part of the repetitive portions of the human genome and are remnants of infections of former exogenous retroviruses. They comprise approximately 8% of the human genome (Landers et al, 2001) and include solitary long terminal repeats (LTRs), non-retroviral sequences flanked by LTRs, and LTRs-like sequences (Mayer et al, 2011). ERVs are divided into various groups. ERVFH21-1 is member 1 of the group F/H of endogenous retroviruses and maps on Chromosome 7, in particular on 7p21.3 (Okahara et al, 2004).

Transcription

Usually, human ERVs are silenced epigenetically and are not transcribed (Kewitz and Staege, 2013), however, they are found to be transcribed in particular situations, such as under pathological conditions, and usually their transcription is initiated by promoter sequences within the proviral LTRs (Mayer et al, 2011). An mRNA sequence for ERVFH21-1 is registered in GenBank as AK023847. The tissue of origin in which it has been identified is the placenta (Kjellman et al, 1999).

Ervfh-

mRNA was detected in placenta (high expression), in saliva (low expression) (ref.: bioGPS.org), and in fetal tissues (Kjellman et al, 1999).

Pseudogene

No pseudogenes were observed for the ERVFH21-1 sequence.

Proteins

Note

It is well-known that human ERVs and ERV-like sequences no longer encode proteins because of the accumulation of nonsense mutations as a consequence of their ancient incorporation into the genome of the host (Mayer et al, 2011). For ERVFH21-1 no protein has been identified so far.

Implicated in

Top note
Expression of ERVs is usually switched off (Kewitz and Staege, 2013) but the expression of ERVs and ERV-like sequences have been reported for a large number of human diseases, including cancer, however, their exact involvement and mechanism of action remain to be clarified (Mayer et al, 2011). Studies on ERVFH21-1 are in their infancy.
Entity name
Human diseases
Note
ERVFH21-1 has not yet been well characterized. However, some preliminary raw data (mRNA expression levels) are present in the literature on its relationship with Hodgkins lymphoma (HL) (Kewitz and Staege, 2013), multiple sclerosis (MS) in Scandinavians (Suntsova et al, 2015) and HIV-associated dementia (HAD)(Christensen, 2016). Furthermore, ERVFH21-1 has been reported to be one of the most highly transcribed HERVs in both normal and cancerous tissues, in particular hematological cancers (Saini et al, 2020) and epitelial skin tumor (Kjellman et al, 1999). ERVFH21-1 mRNA expression has been found in some human hematopoietic cancer cell lines of myeloid lineage, i.e. KG1A, K562 and U937 (Patzke et al, 2002).

Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1268182662016Human endogenous retroviruses in neurologic disease.Christensen T et al
2238477672013Expression and Regulation of the Endogenous Retrovirus 3 in Hodgkin's Lymphoma Cells.Kewitz S et al
3105710391999HERV-F (XA34) is a full-length human endogenous retrovirus expressed in placental and fetal tissues.Kjellman C et al
4112370112001Initial sequencing and analysis of the human genome.Lander ES et al
5215429222011A revised nomenclature for transcribed human endogenous retroviral loci.Mayer J et al
6155337152004Expression analyses of human endogenous retroviruses (HERVs): tissue-specific and developmental stage-dependent expression of HERVs.Okahara G et al
7124826682002Characterization of a novel human endogenous retrovirus, HERV-H/F, expressed in human leukemia cell lines.Patzke S et al
8331688302020Human endogenous retroviruses form a reservoir of T cell targets in hematological cancers.Saini SK et al
9260821812015Molecular functions of human endogenous retroviruses in health and disease.Suntsova M et al

Other Information

Locus ID:

NCBI: 100616104
HGNC: 39047

Variants:

dbSNP: 100616104
ClinVar: 100616104
COSMIC: ERVFH21-1

Citation

Luigi Cristiano

ERVFH21-1 (endogenous retrovirus group FH21 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-02-01

Online version: http://atlasgeneticsoncology.org/gene/62903/ervfh21-1