Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q

@article{Strippoli2001SegmentalPI,
  title={Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q},
  author={Pierluigi Strippoli and Pietro D'addabbo and Luca Lenzi and Sandra Giannone and Silvia Canaider and Raffaella Casadei and Lorenza Vitale and Paolo Carinci and Maria Zannotti},
  journal={Mammalian Genome},
  year={2001},
  volume={13},
  pages={456-462}
}
Few cases of large-scale segmental paralogy have been reported in the human genome. We have identified a large (approximately 500 kb) segment on human chromosome (HC) 21 (21q22) that is triplicated on HC 1 (1p35) and HC 6 (6p12-21). We also identified a new member of CLIC (Chloride Intracellular Channel) family on 21q, namely CLIC6. All three segments appear to include three functional members of three different gene families: DSCR1-like (Down Syndrome Candidate Region 1-like), CLIC, and AML… 
An enigmatic fourth runt domain gene in the fugu genome: ancestral gene loss versus accelerated evolution
TLDR
The results suggest that the runt domain family may have started expanding in chordates much earlier than previously thought, and exemplify the importance of detailed analysis of whole-genome draft sequence to provide new insights into gene evolution.
Identification and analysis of human RCAN3 (DSCR1L2) mRNA and protein isoforms.
TLDR
The interaction between the new RCAN3 variants and TNNI3 is reported, demonstrated by both yeast cotransformation and by the GST (glutathione-sepharose transferase) fusion protein assay, as was to be expected from the presence of exon 2 whose product has been seen to be sufficient for binding to TNNi3.
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
TLDR
The molecular cloning and initial characterisation of two splice forms of a novel member of this family, CLIC6, mapping to human chromosome 21 are reported, which contains a GC rich segment and encodes a 10 amino acid motif repeated 14 times in the amino-terminus.
Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature
TLDR
The first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy is reported, and this study is the second report on partial 6ptrisomy that involves the 10q terminal region.
The Vertebrate RCAN Gene Family: Novel Insights into Evolution, Structure and Regulation
TLDR
It is proposed that the three RCAN vertebrate genes within the ACD clusters, which evolved from single copy genes present in invertebrates and lower eukaryotes, are the result of two rounds of whole genome duplication followed by a segmental duplication.
Proteins encoded by human Down syndrome critical region gene 1-like 2 (DSCR1L2) mRNA and by a novel DSCR1L2 mRNA isoform interact with cardiac troponin I (TNNI3).
TLDR
The interaction between DSCR1L2 and the human cardiac troponin I (TNNI3), the heart-specific inhibitory subunit of the Troponin complex, a central component of the contractile apparatus, is reported, suggesting an entirely new role for a D SCR1-like family gene, suggesting a possible involvement of DSCL2 in cardiac contraction.
Complexity of Bidirectional Transcription and Alternative Splicing at Human RCAN3 Locus
TLDR
This study provides, with in silico and in vitro analyses, the first detailed description of the human multi-transcript RCAN3 locus, which is composed of a multigene system that includes at least 21 RCAN 3 alternative spliced isoforms and a new RCAN2 antisense gene (RCAN3AS).
Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience
TLDR
Chromosomal imbalances were detected and/or characterized in 6 of 39 fetuses, indicating the value of routine array CGH in cases of MCAs and in uncharacterized chromosome rearrangements.
Conservation and expression of an alternative 3' exon of Runx2 encoding a novel proline-rich C-terminal domain.
TLDR
The conservation and widespread utilisation of Runx2 exon 6.1 suggest that its encoded isoforms play an as yet undetermined role in mammalian development.
Evolution of a Core Gene Network for Skeletogenesis in Chordates
TLDR
The results suggest that Runt and Hedgehog were part of a core gene network for cartilage formation, which was already active in the gill bars of the common ancestor of cephalochordates and vertebrates and diversified after Runt duplications had occurred during vertebrate evolution.
...
1
2
...