We have determined the 5' end sequence of the rat embryonic skeletal muscle myosin heavy-chain (MHC) gene comprising the first three amino-terminal coding exons. Comparison with the corresponding regions of the rat ventricular alpha and the nematode Caenorhabditis elegans unc-54 MHC genes (Mahdavi, V., Chambers, A.P., and Nadal-Ginard, B. (1984) Proc. Natl. Acad. Sci. U.S.A. 81, 2626-2630; Karn, J., Brenner, S., and Barnett, L. (1983) Proc. Natl. Acad. Sci. U.S.A. 80, 4253-4257) shows that the degree of amino acid sequence conservation increases from the first to the third exon. Intron positions between these exons are maintained in all three genes studied, whereas size and sequence of corresponding introns are highly divergent. In contrast to the rat MHC genes where the coding region is highly split throughout its entire length, only the 5' end region is frequently interrupted by introns in the nematode gene indicating the potential importance of these introns in gene structure and expression. The occurrence of "preferential" intron positions in the MHC genes suggests the existence of a highly split ancestral MHC gene from which different evolutionary lineages removed and/or added specific sets of introns.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Structural basis of 5' splice site recognition by the minor spliceosome.
Mol Cell
January 2025
European Molecular Biology Laboratory (EMBL), EMBL Grenoble, 71 Avenue des Martyrs, 38042 Grenoble, France. Electronic address:
The minor spliceosome catalyzes excision of U12-dependent introns from precursors of eukaryotic messenger RNAs (pre-mRNAs). This process is critical for many cellular functions, but the underlying molecular mechanisms remain elusive. Here, we report a cryoelectron microscopy (cryo-EM) reconstruction of the 13-subunit human U11 small nuclear ribonucleoprotein particle (snRNP) complex in apo and substrate-bound forms, revealing the architecture of the U11 small nuclear RNA (snRNA), five minor spliceosome-specific factors, and the mechanism of the U12-type 5' splice site (5'SS) recognition.
View Article and Find Full Text PDFLong read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Genome-Wide Identification and Analysis of Transcription Factor Family Genes Involved in Cold Stress Tolerance in Winter Rapeseed ( L.).
Int J Mol Sci
December 2024
State Key Laboratory of Aridland Crop Science, College of Agronomy, Gansu Agricultural University, Lanzhou 730070, China.
Article Synopsis
- TCP transcription factors are crucial for plant growth and stress responses, but their function in the cold stress response of L. is not well understood.
- This research identified a gene family in L., revealing 19 members with varying molecular weights and unstable proteins localized in the nucleus.
- The study found that these genes contain elements responsive to hormones, light, and stress, with significant differential expression during cold stress and other conditions, suggesting they are key regulators in stress response mechanisms.
Characterisation of the Novel HLA-G*01:06:01:02 Allele in a Tribal Individual From Western Maharashtra, India.
HLA
December 2024
Department of Molecular Immunology & Microbiology, Indian Council of Medical Research-National Institute for Research in Reproductive and Child Health (ICMR-NIRRCH), India.
HLA-G*01:06:02:01 differs from HLA-G*01:06:01:01 by one nucleotide substitution in intron 4 at position 1921 (C to T).
View Article and Find Full Text PDFFrom benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites.
J Hum Genet
December 2024
Faculty of Medicine, HDH, University of Southampton, Southampton, United Kingdom.
In the human genome, CAG 3' splice sites (3'ss) are more than twice as frequent as TAG 3'ss. The greater abundance of the former has been attributed to a higher probability of exon skipping upon cytosine-to-thymine transitions at intron position -3 (-3C > T) than thymine-to-cytosine variants (-3T > C). However, molecular mechanisms underlying this bias and its clinical impact are poorly understood.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!