HELLS

For the anime film, see Hells Angels (manga).

Lymphoid-specific helicase (Lsh) is a member of the SNF2 helicase family of chromatin remodeling proteins that in humans is encoded by the HELLS gene.

HELLS
Identifiers
Aliases	HELLS, LSH, PASG, SMARCA6, Nbla10143, ICF4, helicase, lymphoid-specific, helicase, lymphoid specific
External IDs	OMIM: 603946; MGI: 106209; HomoloGene: 50037; GeneCards: HELLS; OMA:HELLS - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q23.33 Start 94,501,434 bp End 94,613,905 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 C3 Start 38,919,359 bp End 38,959,495 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus gonad testicle ventricular zone oocyte secondary oocyte ganglionic eminence epithelium of colon right testis mucosa of transverse colon Top expressed in epiblast tail of embryo abdominal wall Gonadal ridge primitive streak migratory enteric neural crest cell genital tubercle mandibular prominence secondary oocyte somite More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding helicase activity hydrolase activity Cellular component pericentric heterochromatin chromosome, centromeric region nucleus Biological process lymphocyte proliferation cell cycle pericentric heterochromatin assembly maintenance of DNA methylation DNA methylation-dependent heterochromatin assembly regulation of transcription, DNA-templated transcription, DNA-templated cell division multicellular organism development metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3070 15201 Ensembl ENSG00000119969 ENSMUSG00000025001 UniProt Q9NRZ9 Q76H82 Q60848 RefSeq (mRNA) NM_018063 NM_001289067 NM_001289068 NM_001289069 NM_001289070 NM_001289071 NM_001289072 NM_001289073 NM_001289074 NM_001289075 NM_008234 RefSeq (protein) NP_001275996 NP_001275997 NP_001275998 NP_001275999 NP_001276000 NP_001276001 NP_001276002 NP_001276003 NP_001276004 NP_060533 NP_001276000.1 NP_001276000.1 NP_032260 Location (UCSC) Chr 10: 94.5 – 94.61 Mb Chr 19: 38.92 – 38.96 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

The HELLS gene has proved to play critical roles in DNA methylation, chromatin packaging, control of Hox genes, stem cell proliferation, and developing lymphoid tissue.

In a developing embryo, epigenetic programming is controlled through the mechanisms of DNA methylation and chromatin organization. These processes are the master regulators that determine which genes are turned on or off throughout development. Lsh, a protein encoded by the HELLS gene is a major regulator of methylation patterns and thus crucial to normal fetal development.

Mutations and knockouts of the HELLS gene severely disrupts the process of fetal programming. In mice, knockout of HELLS gene resulted in death of embryos at birth and caused embryonic growth retardation. In humans, hypomethylation caused by a mutation in the HELLS gene is linked to Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4). This is a rare disease that causes immunodeficiency, facial anomalies, growth retardation, failure to thrive, and psychomotor retardation. The adverse effects due to the absence and mutation of the HELLS gene is a result of the extensive loss of genomic wide methylation and the abnormal expression of repeat sequences. The disruption in methylation patterns can cause the silencing of genes or the over-expression of genes, leading to abnormal and in some cases fatal developmental consequences.

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Further reading

• Ohira M, Morohashi A, Nakamura Y, Isogai E, Furuya K, Hamano S, et al. (July 2003). "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma". Cancer Letters. 197 (1–2): 63–8. doi:10.1016/S0304-3835(03)00085-5. PMID 12880961.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, et al. (September 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Sun LQ, Lee DW, Zhang Q, Xiao W, Raabe EH, Meeker A, et al. (May 2004). "Growth retardation and premature aging phenotypes in mice with disruption of the SNF2-like gene, PASG". Genes & Development. 18 (9): 1035–46. doi:10.1101/gad.1176104. PMC 406293. PMID 15105378.
• Yano M, Ouchida M, Shigematsu H, Tanaka N, Ichimura K, Kobayashi K, et al. (October 2004). "Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer". International Journal of Cancer. 112 (1): 8–13. doi:10.1002/ijc.20407. PMID 15305370. S2CID 9416948.
• Xi S, Zhu H, Xu H, Schmidtmann A, Geiman TM, Muegge K (September 2007). "Lsh controls Hox gene silencing during development". Proceedings of the National Academy of Sciences of the United States of America. 104 (36): 14366–71. Bibcode:2007PNAS..10414366X. doi:10.1073/pnas.0703669104. PMC 1955459. PMID 17726103.
• Fan T, Hagan JP, Kozlov SV, Stewart CL, Muegge K (February 2005). "Lsh controls silencing of the imprinted Cdkn1c gene". Development. 132 (4): 635–44. doi:10.1242/dev.01612. PMID 15647320.
• Dennis K, Fan T, Geiman T, Yan Q, Muegge K (November 2001). "Lsh, a member of the SNF2 family, is required for genome-wide methylation". Genes & Development. 15 (22): 2940–4. doi:10.1101/gad.929101. PMC 312825. PMID 11711429.

External links

• "HELLS (Helicase, Lymphoid-Specific)". Atlas of Genetics and Cytogenetics in Oncology and Haematology. Archived from the original on 2021-09-03. Retrieved 2020-07-01.