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.
read more
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
read more
Chat with Paper
AI Agents for this Paper
Find similar papers on Google Scholar, PubMed and Arxiv
Write a critical review of this paper
Analyze citations of this paper to find unaddressed research gaps
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.
2.4K
The Brn-3 family of POU-domain factors: Primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons
Mengqing Xiang,Lijuan Zhou,Jennifer P. Macke,Takashi Yoshioka,Stewart H. C. Hendry,Roger L. Eddy,Thomas B. Shows,Jeremy Nathans +7 more
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
TL;DR: The lyt -10 gene defines a new subfamily (rel/poly-G/ankyrin) of NF-κB-rel transcription factors with potential for oncogenic activation in human cancer.
391
•Book
Advances in Human Genetics
Harry Harris,Kurt Hirschhorn +1 more
- 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.
References
Genetics of human-mouse somatic cell hybrids: Linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase
TL;DR: Based on somatic cell genetic analysis, autosomal gene linkage is reported for the supernatant enzymes of human isocitrate dehydrogenase (IDH) and malate dehydrogenases (MDH) in human-mouse cell hybrids.
32
A search for electrophoretic variants of human adenine phosphoribosyl transferase.
TL;DR: A method for the electrophoresis of APRT in starch gel is described, the results of a search for APRT variants in Caucasian and Negro populations using this technique are reported, and some related studies on the usual form of the enzyme are reported.
32
Human β-glucuronidase: Assignment of the structural gene to chromosome 7 using somatic cell hybrids
TL;DR: In demonstrating that GUS was not assigned to chromosome 9 utilizing an X/9 translocation segregating in cell hybrids, the gene coding for human adenylate kinase1 was confirmed to be located on chromosome 9.
30
Mouse alpha-globin genes and alpha-globin-like pseudogenes are not syntenic
TL;DR: A genetic polymorphism for a Bgl I endonuclease site near the alpha-globin-like pseudogenealpha-4 of C57BL/6 and C3H/HeN mice was used to show that alpha-4 was not affected by three independent mutations in which the adult globin genes alpha-1 and alpha-2 were deleted.
29