Transcript Implications of the Human Genome for Understanding

From: Implications of the Human Genome for Understanding Human Biology and Medicine
JAMA. 2001;286(18):2296-2307. doi:10.1001/jama.286.18.2296
Figure Legend:
Schematic of a large duplicated segment between chromosome 18 (18q22)and 20 (20q13) to show examples of the genes and their
predominantly colineardistribution on both duplicated segments, with the gene names of 7 of the56 gene pairs shown. The
chromosome 18 segment represents 13 million basepairs (bp) of genomic DNA sequence, whereas the chromosome 20 segment
represents1.4 million bp of genomic DNA. These genes represent a diverse set of proteins,including nuclear transcription factors
(ZNF236 and Kruppel-related: Kruppelfamily transcription
NFATC1Medical
and NFAT-related: nuclear factor of activatedT-cells;
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4/7/2017 GATA transcription factors; TALE homeoboxfamily members, involved in nuclear protein transcription) as
GATA6
and GATA-related:
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well as potassiumchannel-related factors (KCNG1 and KCNG2: potassium voltage-gated channels,subfamily G); RAB31 and Ras
From: Implications of the Human Genome for Understanding Human Biology and Medicine
JAMA. 2001;286(18):2296-2307. doi:10.1001/jama.286.18.2296
Figure Legend:
Segmental duplications comparable to those in chromosomes 18 and20 (see Figure 1) occur throughout the human genome. Chr
indicates chromosome.
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From: Implications of the Human Genome for Understanding Human Biology and Medicine
JAMA. 2001;286(18):2296-2307. doi:10.1001/jama.286.18.2296
Figure Legend:
A protein domain is a structural and functional unit that shows evolutionaryconservation and, by convention, is represented as a
distinct geometric shape.Thus, proteins are made up of 1 or more such building blocks or "domains"and, depending on the types
and numbers of domains, proteins with differentbiological capabilities are created. Many of these domains have seeminglyarbitrary
nomenclature that, in many cases, reflects the experimental nuancesof their initial description. A library of curated protein domains
with theirbiological descriptions is available through
the Pfamand
SMART databases.A,
The extensive domainshuffling seen in the
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plasma
proteases4/7/2017
of the coagulation and complement
systems.The
"ancient"
trypsin
family
serine protease domain occurs in
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combinationwith a myriad of protein interaction domains. Most of these domains are evolutionarilyancient, that is, with the exception
From: Implications of the Human Genome for Understanding Human Biology and Medicine
JAMA. 2001;286(18):2296-2307. doi:10.1001/jama.286.18.2296
Figure Legend:
The numbers of proteins containing the specified Pfam domain or proteinfamily for each of the animal genomes were derived by
computational analysis. Representative protein domains or protein familiesthat show a 2-fold or greater expansion in the human
were categorized intocellular processes (eg, developmental regulators; neural structure and function;or hemostasis, complement
system, and immune response) for representation.A detailed biological description of each of these protein domains may beobtained
from the Pfam or SMARTdatabases. TGF-β indicates
transforming
growthMedical
factor-β; TSP, thrombospondin;CCP, complement control
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protein;
and TIR, toll
interleukin receptor.Notableexamples
from
this
list
of
proteins
that are unique to the human (when
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comparedwith the fly and worm) include connexins (constitutive subunits of intercellularchannels, providing the structural basis for