RNA, U4atac small nuclear (U12-dependent splicing) is a
small nuclear RNA
Small nuclear RNA (snRNA) is a class of small RNA molecules that are found within the splicing speckles and Cajal bodies of the cell nucleus in eukaryotic cells. The length of an average snRNA is approximately 150 nucleotides. They are transcribe ...
that in humans is encoded by the ''RNU4ATAC''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor
spliceosome
A spliceosome is a large ribonucleoprotein (RNP) complex found primarily within the nucleus of eukaryotic cells. The spliceosome is assembled from small nuclear RNAs (snRNA) and numerous proteins. Small nuclear RNA (snRNA) molecules bind to specifi ...
complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome is required for the splicing of approximately 700 specific introns in the human genome.
Genomics
The ''RNU4ATAC'' gene is located on
chromosome 2
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost e ...
(2q14.2). It is a single copy gene that is embedded within an intron of the protein coding ''CLASP1'' gene but is transcribed in the antisense direction from ''CLASP1''.
Clinical importance
Defects in this gene are a cause of several human inherited syndromes all of which show autosomal recessive inheritance. These include Taybi Linder syndrome (microcephalic osteodysplastic
primordial dwarfism
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportion ...
type 1 (MOPD1),
Roifman syndrome and
Lowry-Wood syndrome
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. ...
.
References
Further reading
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