Genomic Structure and Chromosomal Localization ofTCEAL1,a Human Gene Encoding the Nuclear Phosphoprotein p21/SIIR

doi:10.1006/geno.1998.5705

Genomics

Volume 56, Issue 2, 1 March 1999, Pages 217-220

https://doi.org/10.1006/geno.1998.5705 Get rights and content

Abstract

Human p21/SIIR is a novel Ser/Arg/Pro-rich nuclear phosphoprotein that is 48% similar to transcription factor SII and modulates transcription in a promoter context-dependent fashion. We have obtained the complete sequence ofTCEAL1,the gene that codes for p21/SIIR. This gene consists of three exons and two introns with the entire coding sequence in exon III. Tissue-specific expression patterns ofTCEAL1by Northern blot analysis showed the presence of an ∼1.2-kb transcript in all normal human tissues examined, and heart and skeletal muscle contained an additional transcript of ∼7 kb. Expression was lowest in hematopoietic cells of both normal and tumor origin.TCEAL1was mapped to human chromosome Xq22.1 by fluorescencein situhybridization.

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Cited by (15)

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
2022, American Journal of Human Genetics
Citation Excerpt :
TCEAL1 (transcription elongation factor A-like 1 [MIM: 300237]) is a single coding-exon gene that encodes a 21-kDa nuclear phosphoprotein, referred to as TCEAL1 (or p21/SIIR). The encoded protein is related to the S-II class of transcription elongation factors as it consists of three main functional domains along its length of 157 amino acids (aa), an arginine/serine (RS) domain, a zinc-finger-like (ZnF-L) domain, and a helix-turn-helix (HTH) domain, and has a predicted RNA polymerase II binding site.5,6,7 Previous knockout functional studies of the different domains of TCEAL1 in the context of the Rous sarcoma virus were conducted in transfected COS-1 cells where it was shown that loss of function (LoF) of the C-terminal domain of TCEAL1, RS, and the middle domain, ZnF-L, lead to down-regulation of the promoter activity of the virus; whereas LoF of the N-terminal domain, HTH, had minimal effects on the promoter activity of the virus.6
An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 genes (BEX3, RAB40A, TCEAL4, TCEAL3, TCEAL1, and MORF4L2) associate with an early-onset neurological disease trait (EONDT) consisting of hypotonia, intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. None of the genes within the SRO have been associated with monogenic disease in OMIM. Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seven de novo variants involving TCEAL1 in seven unrelated families: three hemizygous truncating alleles; one hemizygous missense allele; one heterozygous TCEAL1 full gene deletion; one heterozygous contiguous deletion of TCEAL1, TCEAL3, and TCEAL4; and one heterozygous frameshift variant allele. Variants were identified through exome or genome sequencing with trio analysis or through chromosomal microarray. Comparison with previously reported Xq22 deletions encompassing TCEAL1 identified a more-defined syndrome consisting of hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features include strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies. An additional maternally inherited hemizygous missense allele of uncertain significance was identified in a male with hypertonia and spasticity without syndromic features. These data provide evidence that TCEAL1 loss of function causes a neurological rare disease trait involving significant neurological impairment with features overlapping the EONDT phenotype in females with the Xq22 deletion.
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^☆: Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession No. AF095906.

¹: To whom correspondence should be addressed. Telephone: (732) 235-5311. Fax: (732) 235-5318. E-mail:[email protected].

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Regular ArticleGenomic Structure and Chromosomal Localization ofTCEAL1,a Human Gene Encoding the Nuclear Phosphoprotein p21/SIIR☆

Abstract

Genomics

Genomics

J. Biol. Chem.

J. Biol. Chem.

PAK3

Nat. Genet.

Regular Article
Genomic Structure and Chromosomal Localization ofTCEAL1,a Human Gene Encoding the Nuclear Phosphoprotein p21/SIIR☆