Book Chapter10.1007/978-1-4615-8315-8_5
Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease
207
TL;DR: Mapping the human genome involves partitioning the total number of genes into individual maps representing the 24 different human nuclear chromosomes and linearly ordering them on each chromosome and a similar exercise has mapped the 37 genes encoded in the DNA of the mitochondrial genome.
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Abstract: It is estimated that the human haploid genome is composed of 3 × 109 nucleotides and that only 10% of it consists of coding and regulatory sequences.14 If a gene is approximately 104 nucleotides in length, which includes the coding region and the intervening and flanking sequences, this estimate would predict that there are about 3–10 × 104 human genes coding for different protein products. Since gene clustering in humans has become evident (for example, the hemoglobin, immunoglobin, and HLA clusters), these estimated gene products may be grouped in from 3000 to 15,000 clusters.15 Further, based upon genetic and molecular studies of microorganisms, Drosophila, and the mouse, there are perhaps 5 × 104 structural genes estimated in humans,14,106,183 which is in agreement with the number of estimated protein products in the human genome. Mapping the human genome involves partitioning the total number of genes into individual maps representing the 24 different human nuclear chromosomes and linearly ordering them on each chromosome. A similar exercise has mapped the 37 genes encoded in the DNA of the mitochondrial genome.2
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Citations
A polymorphic DNA marker genetically linked to Huntington's disease
James F. Gusella,Nancy S. Wexler,P. Michael Conneally,S. L. Naylor,Mary Anne Anderson,Rudolph E. Tanzi,Paul C. Watkins,Kathleen Ottina,Margaret R. Wallace,Alan Y. Sakaguchi,Anne B. Young,Ira Shoulson,Ernesto Bonilla,Joseph B. Martin +13 more
TL;DR: The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder.
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TL;DR: In vitro selection of an optimal DNA binding site using the Brn-3b POU domain has revealed a consensus [(A/G)CTCATTAA(T/C)] that is recognized by each of the BrN-3 POU domains and is distinct from binding sites previously described for other Pou domain proteins.
444
B cell lymphoma-associated chromosomal translocation involves candidate oncogene lyt-10, homologous to NF-κB p50
Antonino Neri,Antonino Neri,Chih Chao Chang,Luigia Lombardi,Mauro Salina,Paolo Corradini,Anna Teresa Maiolo,R. S. K. Chaganti,Riccardo Dalla-Favera +8 more
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391
•Book
Advances in Human Genetics
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- 01 Jan 1974
TL;DR: This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease.
364
Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma.
Andrew Arnold,Hyung Goo Kim,Randall D. Gaz,Roger L. Eddy,Y. Fukushima,M. G. Byers,Thomas B. Shows,Henry M. Kronenberg +7 more
TL;DR: The D11S287 clone could prove useful in genetic linkage analyses, in determining precise 11q13 breakpoints in other neoplasms, and in identifying a gene on chromosome 11 that may participate in parathyroid tumor development.
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Efficient Translation of Tobacco Mosaic Virus RNA and Rabbit Globin 9S RNA in a Cell-Free System from Commercial Wheat Germ
TL;DR: The in vitro product directed by globin 9S RNA comigrated precisely with authentic rabbit globin on sodium dodecyl sulfate-polyacrylamide gels during high voltage ionophoresis, and two [(35)S]methionine-labeled tryptic peptides synthesized in vitro comigrated in two dimensions with alphaT5 and betaT5 tryptic amino-acid incorporation from authentic [( 35)S].
In Vitro Synthesis of DNA Complementary to Purified Rabbit Globin mRNA
TL;DR: It is found that purified mRNA is an efficient template for the polymerase enzyme, and the product has a density intermediate between that of DNA and RNA, and shifts to a lighter DNA density after treatment with base.
Gene transfer by means of cell fusion. II. The mapping of 8 loci on human chromosome 1 by statistical analysis of gene assortment in somatic cell hybrids
S.J. Goss,H. Harris +1 more
TL;DR: A comparison of the statistical maps of chromosome I and of the X-chromosome with the cytogenetic maps of these chromosomes at metaphase indicates that the statistically derived distances between genes are related to the amount of Giemsa light-band material between the genes.
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation
Yuet Wai Kan,Andrée M. Dozy +1 more
TL;DR: Restriction endonuclease mapping of the human globin genes revealed a genetic variation in a Hpa I recognition site about 5000 nucleotides from the 3' end of the beta-globin structural gene.
Human growth hormone: complementary DNA cloning and expression in bacteria
TL;DR: The data reported predict the previously unknown sequence of the signal peptide of human growth hormone and strengthens the hypothesis that these genes evolved by gene duplication from a common ancestral sequence.