A Draft Sequence of the Neanderthal Genome: Review Part 5

Chromosome 14

MIR337: microRNA 337. ‘microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs’.

MIR665: microRNA 665. see MIR 337. microRNA 431. See MIR 337 for general information. Specific function doesn’t appear to be characterised.

DLK1: Delta-like 1 homolog. ‘This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor’. ‘A polymorphism within this gene has been associated with child and adolescent ‘. obesity.

RTL1: Retrotransposon-like 1. ‘This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries’. Process: Multicellular organismal development. Component: Integral to membrane. Membrane.

MIR431: microRNA 431. See MIR 337 for general information. Specific function doesn’t appear to be characterised.

MIR493: microRNA 493. See MIR 337 for general information. Specific function doesn’t appear to be characterised.

MEG3: maternally expressed 3. ‘MEG3 is a maternally expressed imprinted gene which appears to function as an RNA molecule; multiple splice variants are observed in the available sequence data and a pituitary transcript variant has been associated with inhibited cell proliferation’. ‘The expression profile in mouse of the co-regulated Meg3/Gtl2 and Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization, and prenatal lethality’.

MIR770: microRNA 770. See MIR 337 for general information. Specific function doesn’t appear to be characterised.

Chromosome 21

DYRK1A: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A. ‘It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21’. Function: ATP-binding. Non-membrane spanning protein tyrosine kinase activity. Nucleotide binding. Protein binding. Protein kinase activity. Protein self-assocation. Protein serine/threonine kinase activity. Protein tyrosine kinase activity. Transferase activity. Process: Nervous system development. Peptidyl-tyrosine phosphorylation. Peptidyl-tyrosine phosphorylation. Protein aminoa acid autophosphorylation. Protein amino acid phosphorylation. Component: Nuclear speck. Nucleus.

Thus the genes here are involved in foetal/neural development as well as cell differentiation all of which may have profound influences on physiology and anatomy although more information is needed for functional characterisation.


A Draft Sequence of the Neandertal Genome.Richard E. Green, Johannes Krause, Adrian W. Briggs, Tomislav Maricic,  Udo Stenzel, Martin Kircher, Nick Patterson,  Heng Li, Weiwei Zhai,  Markus Hsi-Yang Fritz, Nancy F. Hansen, Eric Y. Durand, Anna-Sapfo Malaspinas, Jeffrey D. Jensen, Tomas Marques-Bonet, Can Alkan, Kay Prüfer, Matthias Meyer, Hernán A. Burbano, Jeffrey M. Good, Rigo Schultz, Ayinuer Aximu-Petri,  Anne Butthof, Barbara Höber, Barbara Höffner,  Madlen Siegemund, Antje Weihmann, Chad Nusbaum,  Eric S. Lander, Carsten Russ, Nathaniel Novod,  Jason Affourtit, Michael Egholm, Christine Verna, Pavao Rudan, Dejana Brajkovic,  Zeljko Kucan, Ivan Gusic,  Vladimir B. Doronichev, Liubov V. Golovanova,  Carles Lalueza-Fox, Marco de la Rasilla, Javier Fortea,  Antonio Rosas, Ralf W. Schmitz,  Philip L. F. Johnson, Evan E. Eichler, Daniel Falush, Ewan Birney, James C. Mullikin, Montgomery Slatkin, Rasmus Nielsen, Janet Kelso, Michael Lachmann, David Reich,Svante Pääbo. Science 7 May 2010:Vol. 328. no. 5979, pp. 710 – 722.

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