Showing papers on "Chromosome 22 published in 1980"
TL;DR: The sequence data suggest that intergenic conversions occur in the germ line, and strongly suggest that DNA sequence polymorphisms for localized deletions, additions and base substitutions are very common in human populations.
810 citations
TL;DR: A library of genomic DNA segments has been constructed from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background, and using a nucleic acid hybridization technique that distinguishes human and Chinese hamsters interspersed, repetitive DNA, this approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.
Abstract: Recombinant DNA techniques have been combined with somatic cell genetic methods to identify, isolate, and amplify fragments of human DNA localized at specific regions of human chromosome 11 selected as a model system. A library of genomic DNA segments has been constructed, in λ Charon 4A bacteriophage, from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background. Using a nucleic acid hybridization technique that distinguishes human and Chinese hamster interspersed, repetitive DNA, we have been able to distinguish recombinant phages carrying DNA segments of human origin from recombinant phages carrying DNA segments of Chinese hamster origin. We have isolated 50 human DNA segments thus far and have characterized 5 in detail. For each DNA segment characterized, a subsegment that carries no repetitive human DNA sequences has been identified. These segments have been used as hybridization probes in experiments that localize the DNA fragment on the chromosome. In each case an unequivocal chromosomal localization has been obtained with reference to a panel of hybrid cell clones each of which carries a deletion of a portion of the short arm of chromosome 11. At least one DNA segment has been identified which maps to each of the four regions on the short arm defined by the panel of hybrid cell clones used. The approaches described here appear to be general. They can be extended to produce a fine structure map of human chromosome 11 and other human chromosomes. This approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.
187 citations
TL;DR: In this paper, satellite DNA sequences have become distributed along the length of the W and resulted in morphological differentiation of sex chromosomes, which strongly suggests that functional constraints may have limited sequence divergence.
Abstract: Satellites visible in female but not in male DNA were isolated from the snakesElaphe radiata (satellite IV, p = 1.708 g · cm−3) andBungarus fasciatus (BK1 minor, p=1.709 g · cm−3). The satellites cross hybridize. Hybridization of3H labelled nick translated BK minor satellite DNA with the total male and female DNA and/or chromosomes in situ of different species of snakes revealed that its sequences are conserved throughout the snake group and are mainly concentrated on the W chromosome. Snakes lacking sex chromosomes do possess related sequences but there is no sex difference and visible related satellites are absent. The following conclusions have been reached on the basis of these results. 1. The W chromosome associated satellite DNA is related to similar sequences scattered in the genome. 2. The origin and increment in the number of the W satellite DNA sequence on the W chromosome is associated with the heterochromatinization of the W. 3. Satellite sequences have become distributed along the length of the W and resulted in morphological differentiation of sex chromosomes. 4. Evolutionary conservation of W satellite DNA strongly suggests that functional constraints may have limited sequence divergence.
157 citations
TL;DR: The human genes for growth hormone, chorionic somatomammotropin, and a third growth hormone-like gene (GHL) have been located on chromosome 17 in humans and a 7.5-kilobase DNA fragment related to growth hormone DNA sequences was found in mouse cells.
Abstract: The human genes for growth hormone (GH), chorionic somatomammotropin (CSH), and a third growth hormone-like gene (GHL) have been located on chromosome 17 in humans. DNA fragments of 2.6, 2.8, and 9.5 kilobase pairs containing GH, CSH, and GHL, respectively, were identified in human genomic DNA, and a 7.5-kilobase DNA fragment related to growth hormone DNA sequences was found in mouse cells. In somatic hybrids of human and mouse cells containing reduced numbers of human chromosomes, but a normal complement of mouse chromosomes, the mouse, 7.5-kolobase DNA fragment was always present, whereas the 2.6-, 2.8-, and 9.5-kilobase human fragments were present only when human chromosome 17 was also present.
154 citations
TL;DR: These localizations should assist in the construction of additional useful chromosome marker stocks, especially since several of these enzyme loci lie in regions that were previously poorly mapped.
Abstract: Linkage relationships of 19 enzyme loci have been examined. The chromosomal locations of eight of these loci are formally reported for the first time in this paper. These localizations should assist in the construction of additional useful chromosome marker stocks, especially since several of these enzyme loci lie in regions that were previously poorly mapped. Six loci are on the long arm of chromosome 1. The arrangement is (centromere)—Mdh4-mmm-Pgm1-Adh1-Phi-Gdh1, with about 46% recombination between Mdh4 and Gdh1.—Linkage studies with a2 and pr have resulted in the localization of four enzyme genes to chromosome 5 with arrangement Pgm2-Mdh5-Got3-a2-(centromere)-pr-Got2. Pgm2 lies approximately 35 map units distal to a2 in a previously unmapped region of the short arm of 5, beyond ameiotic.—Approximately 23% recombination was observed between Mdh4 and Pgm1 on chromosome 1, while 17% recombination occurred between Mdh5 and Pgm2 on chromosome 5. Similarly, linkages between Idh1 and Mdh1, about 22 map units apart on chromosome 8, and between Mdh2 and Idh2, less than 5 map units apart on chromosome 6, were observed. Thus, segments of chromosomes 1 and 5 and segments of 6 and 8 may represent duplications on nonhomologous chromosomes.
118 citations
TL;DR: Interestingly, human chromosome 14, which carries the genes for human immunoglobulin heavy chains, appears to be retained by almost all the hybrid clones and subclones.
Abstract: Loss of human chromosomes from mouse × human hybridomas is not random. Human chromosomes 14, 5 and 22 are preferentially retained, while chromosomes 2 and 1 are preferentially lost. Interestingly, human chromosome 14, which carries the genes for human immunoglobulin heavy chains, appears to be retained by almost all the hybrid clones and subclones.
83 citations
TL;DR: Further genetic analysis provides support for the hypothesis that a significant nonhomology exists between the arrangement of DNA sequences on wild-type and t-carrying chromosome 17 and could account for both the suppression of normal recombination along the stretch of t chromatin and the frequent unequal crossing over when rare recombinational events do take place.
Abstract: The Tcp-1 gene located within the T/t complex on chromosome 17 of the mouse codes for a major cell surface-associated protein p63/6.9. Previously, we identified two structural alleles of this gene which specify alternate forms of the p63/6.9 protein. The Tcp-1b allele is associated with all wild-type chromosome 17; the Tcp-1a allele is found only with chromosome 17 carrying a complete t haplotype. Normal recombination along a major length of chromosome 17 is suppressed in mice that are heterozygous for any complete t haplotype. Suppression is not complete, however, and rare crossing over between wild-type and t haplotype chromatin does occur. In this report, 15 rare recombinant chromosomes have been analyzed for Tcp-1 alleles. The results indicate that in four independent events the Tcp-1b and Tcp-1a alleles have become associated in cis position in a single DNA molecule. Further genetic analysis provides support for the hypothesis that a significant nonhomology exists between the arrangement of DNA sequences on wild-type and t-carrying chromosome 17. This could account for both the suppression of normal recombination along the stretch of t chromatin and the frequent unequal crossing over when rare recombinational events do take place.
52 citations
TL;DR: The results suggest the assignment of ARSA and NAGA to the region 22q13 leads to 22qter and of ACO2 to the regions 22q11 leads to22q13.
Abstract: The segregation of the chromosome 22 markers AC02, ARSA, and NAGA was studied in somatic cell hybrid clones. These hybrids were isolated following fusion of Chinese hamster (E36 or a3) cells with leuc
46 citations
TL;DR: Using chromosome heteromorphisms and blood cell types as genetic markers, chimerism in a chi46,XX/46,XY true hermaphrodite is demonstrated and it is concluded that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the Ovum and subsequent fusion of the two zygotes.
Abstract: Using chromosome heteromorphisms and blood cell types as genetic markers, we demonstrated chimerism in a chi46,XX/46,XY true hermaphrodite. The pattern of inheritance of the chromosome heteromorphisms indicates that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the ovum and subsequent fusion of the two zygotes. This conclusion is based on the identification of the same maternal chromosomes 13, 16, and 21 in both the 46,XX and 46,XY cells of the patient. In the two cell lines of the chimera, chromosomal markers showed different paternal No. 9 chromosomes and sex chromosomes, as well as the same paternal chromosome 22.
43 citations
TL;DR: A ring 12 chromosome was found in a male child with minor phenotypic alterations and since there is no other case of a ring 12 in the literature, it was found to be normal.
Abstract: A ring 12 chromosome was found in a male child with minor phenotypic alterations. No obvious loss of chromosome material was detected. Since there is no other case of a ring 12 in the literature, it w
43 citations
TL;DR: The unexpected restoration of male fertility was observed in T43H / Rb7Bnr hybrids which made it possible to prepare the first homozygotes for T43h male–sterile translocation, and the significance of centromere − t (or H-2 ) distance on the predictable restrictions of the possible haploid manifestation of T-t or H- 2 gene products on sperm membrane is discussed.
Abstract: Linkage relationships of three gene markers of chromosome 17, namely Brachyury (T), tufted (tf) , and Histocompatibility-2 (H-2) , to the break-point of T(16; 17)43H male sterile translocation were established. The following order was found: T − tf − T43H − H-2 . In all cases the translocation break was found in cis to H-2 k , haplotype, no recombinant being found among 218 backcross individuals examined. More than 60 viable and fertile animals trisomic for the proximal part of chromosome 17 (including T-t genetic complex) have been recovered among progeny of T43H /+ female translocation heterozygotes as a result of adjacent −2 disjunction at first meiotic division. Mutation tf has been assigned to band 17B in chromosome 17 by comparing the location of T190Ca and T43H genetic and cytological breakpoints. Recombination between centromere 17 and T43H break was reduced almost to zero in the presence of Rb(16.17)7Bnr translocation. The unexpected restoration of male fertility was observed in T43H / Rb7Bnr hybrids ( T43H /+ males being completely sterile) which made it possible to prepare the first homozygotes for T43H male–sterile translocation. Direct estimation of chiasma frequencies in centromere 17− T43H region indicated an 11 cM distance between the centromere 17 and the proximal end of t 12 haplotype. The significance of centromere − t (or H-2 ) distance on the predictable restrictions of the possible haploid manifestation of T-t or H-2 gene products on sperm membrane is discussed.
TL;DR: The two X-specific clones identified here should be useful in investigating the mechanism of X inactivation and in isolating a Barr body.
TL;DR: The course of DNA synthesis in the chromosomes was studied in synchronized human lymphocyte cultures, by means of the BrdU-Hoechst-Giemsa method, and with regard to banding the process of DNA replication can be divided into two separate phases.
Abstract: The course of DNA synthesis in the chromosomes was studied in synchronized human lymphocyte cultures, by means of the BrdU-Hoechst-Giemsa method. In comparing replication patterns and G-banding it was found that with regard to banding the process of DNA replication can be divided into two separate phases, an “early replication period” which is characterized by DNA synthesis in R bands of the autosomes and active X chromosome, and a “late replication period” which concerns the G-positive regions of the autosomes and all the bands of the heterochromatic X and Y chromosomes. No overlapping was found between the two phases mentioned. The possible role of regulatory mechanisms was discussed.
TL;DR: An exclusion mapping method is described which attempts to combine in a compact form negative information from deletion studies and studies on families segregating for existing reference markers, centromere markers and familial translocations.
Abstract: Summary
An exclusion mapping method is described which attempts to combine in a compact form negative information from deletion studies and studies on families segregating for existing reference markers, centromere markers and familial translocations. A meiotic map is provided for exclusion mapping. Chromosome 22 is used as a worked example of the exclusion mapping of the MNSs blood group. A particular assignment for MNSs to the q28 or q31 region of chromosome 4 is suggested by this method.
TL;DR: The hypothesis that the genetic content of chromosome 15 rather than its translocated state is decisive for the preferential duplication of this chromosome in T‐cell leukemogenesis is supported, however, the genetic background of the strain from which chromosome 15 is derived may also influence the duplication pattern of individual tumors.
Abstract: Four combinations of translocation heterozygotes with cytogenetically distinct chromosomes 15 were used to investigate whether the T-cell leukemia-associated duplication of chromosome 15 is a non-random or a random event. In leukemias of AKR x CBAT6T6F1 (Group 1) and C57BL x CBAT6T F1 (Group IV) crosses the duplication was non-random, affecting the AKR-derived chromosome 15 (Group 1) and CBAT6T6-derived T (14;15) 6 chromosome (Group IV), respectively. In contrast, in leukemias induced in CBA x CBA T6T6F1 combinations (Group III) - where both chromosomes 15 (normal and translocated) were CBA-derived-the duplication was random. Similarly, in the Rb6;15 x CBAT6T6F1 cross (group II) the duplication of chromosome 15 appeared to be random. The results supported the hypothesis that the genetic content of chromosome 15 rather than its translocated state is decisive for the preferential duplication of this chromosome in T-cell leukemogenesis. However, the genetic background of the strain from which chromosome 15 is derived may also influence the duplication pattern of individual tumors.
TL;DR: A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions.
Abstract: A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.
TL;DR: There is no site specificity for integration of SV40 into human cells either at the chromosome level or at the gross viral DNA level, according to these results along with others.
TL;DR: Because arg1 had previously been used to define an 18th chromosome, these results reestablished the minimum chromosome number in Saccharomyces cerevisiae as 17.
Abstract: Through use of multiply disomic strains, the genes arg1 and arg8 were excluded from all of chromosomes I to XVII except (i) XV and (ii) IX and XV, respectively. Further aneuploid analyses showed that these two genes were on the same chromosome. By tetrad analysis, arg1 was shown to be linked to SUP3 on the left arm of chromosome XV (parental ditype:nonparental ditype:tetratype = 74; 6:139) and arg8 was shown to be loosely linked to arg1 (parental ditype:nonparental ditype:tetratype 72:17:220) on the same arm. The sequence of the genes on this chromosome arm is centromere-SUP3-arg8. Because arg1 had previously been used to define an 18th chromosome, these results reestablished the minimum chromosome number in Saccharomyces cerevisiae as 17.
TL;DR: Clinical and cytogenetic findings are compared with other reported cases of chromosome 1 interstitial deletion, found in a child brought to us with multiple anomalies.
Abstract: A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion.
TL;DR: The distribution of chromosome gains in this material was correlated with those detected in direct preparations from human tumors, and certain differences in the frequency of particular aberrations appeared to be related to the clinical conditions of the patients from whom the lines were derived.
Abstract: Gains and losses of chromosomes or chromosome arms were recorded in 45 of 165 human B-cell lines. Most aberrations were acquired in vitro, and their frequency was related to duration of culture. Gains occurred more frequently than losses and their distribution was nonrandom. Chromosomes most commonly affected were No. 3, 7, 8 (particularly 8q), 9, 12, and 21. Certain differences in the frequency of particular aberrations appeared to be related to the clinical conditions of the patients from whom the lines were derived. The distribution of chromosome gains in this material was correlated with those detected in direct preparations from human tumors.
TL;DR: Based on the position of the Ag-stained NORs and staining intensity of the Q and C methods in the short arms, mechanisms of producing the enlarged short arms of D- and G-group chromosomes are discussed.
Abstract: The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enlarged short arm, two were found to involve chromosome 22, one was a 13, and one, a 14. Four of the other variants had only one Ag-stained NOR. From the positions of the NORs, three of them were judged to have enlarged satellites (two chromosomes 15 and one 22) and the other an enlarged short arm (a 15). In the remaining variant (a 14), no Agstained material was noted in the short arm, so it could not be determined whether this variant chromosome was derived from the enlargement of the short arm or from satellites. Based on the position of the Ag-stained NORs and staining intensity of the Q and C methods in the short arms, mechanisms of producing the enlarged short arms of D- and G-group chromosomes are discussed.
TL;DR: The addition of a Y chromosome markedly reduced heterochromatisation; in XXY larvae there was no difference between the DNA contents of translocated and non-translocated 3D1-E2 regions, and in region 3C1-10 the percentage excess of DNA in the translocated homologue was approximately double that found in XX larvae.
Abstract: The DNA content of translocated polytene chromosome regions in Drosophila melanogaster is affected by heterochromatic position effect. Microdensitometric studies on w
m258-21 translocation heterozygotes showed (Hartmann-Goldstein and Cowell, 1976; Cowell and Hartmann Goldstein, 1980) that band region 3D1-E2, adjacent to the breakpoint, contained less DNA than the homologous non-translocated region whereas the neighbouring 3C1-10 region contained more DNA than its non-translocated counterpart. In the nuclei selected for measurement the translocated X chromosome was morphologically euchromatic, but both regions undergo heterochromatisation in other nuclei within the same salivary gland. To explore the relationship between changes in DNA content and heterochromatisation, the effect on DNA content of two known modifiers of heterochromatisation has now been studied. Larvae cultured at 15° C, which exhibit more heterochromatisation than those grown at 25° C, have the same relative DNA contents as at the higher temperature. The addition of a Y chromosome markedly reduced heterochromatisation; in XXY larvae there was no difference between the DNA contents of translocated and non-translocated 3D1-E2 regions, and in region 3C1-10 the percentage excess of DNA in the translocated homologue was approximately double that found in XX larvae. The relationship between replication behaviour and compaction suggested by these results is discussed.
Journal Article•
TL;DR: In patients with chronic myelogenous leukaemia (CML), it is found the break points on the long arm of chromosome 22 (22q) are variable (heteromorphic or polymorphic) and the Philadelphia (Ph1) chromosome is heteromorphic in size for theLong arm.
Abstract: Summary In patients with chronic myelogenous leukaemia (CML), we have found the break points on the long arm of chromosome 22 (22q) are variable (heteromorphic or polymorphic). Consequently, the Philadelphia (Ph1) chromosome is heteromorphic in size for the long arm. Based upon the break points and the relative size of chromosome 22, four types of Ph1 chromosomes are proposed. They are: Types I (very large), II (large), III (average) and IV (small) with the break points at bands 22q13.3, 22q13.1, 22q12 and 22q11.3, respectively. The break points are arbitrary and should not be considered absolute since they are based on length differences. In two cases the Ph1 chromosome involved a translocation between chromosome 9 and 22, and the other two cases chromosome 1 or 12. Because Types I and II are hard to recognize by conventional techniques, the RFA technique (R. band by fluorescence with acridine orange) must be performed on all cases. An earlier contention that only chromosome 22 band 12 is concerned with abnormal myeloid cell proliferation in human leukaemia is rejected. Furthermore, break points are not restricted at the junction of 22q1 and q2 and 22q2 and q3 and can happen anywhere on the long arm of chromosome 22.
Journal Article•
TL;DR: In a female newborn with the clinical and postmortem findings of Pätau's syndrome no trisomy 13 could be found by chromosomal investigation, and the karyotype 45,XX,11,22,+(11;22) (p15;q11) was ascertained by GTG-,RFA- and TFA-banding.
Abstract: In a female newborn with the clinical and postmortem findings of Patau's syndrome no trisomy 13 could be found by chromosomal investigation. Rather, the karyotype 45,XX,-11,-22,+(11;22) (p15;q11) was ascertained by GTG-,RFA-and TFA-banding. The long arm of one chromosome 22 is translocated upon the short arm of one chromosome 11, and the remaining part of the derivative chromosome 22 is lost. The child therefore is monosomic for 22pter leads to q11 and probably for the telomeric region of 11p15. Since both parents possess normal karyotypes, it is a de novo translocation. The case in point illustrates that the more correlation of a given phenotype to a specific karyotype is not possible in all cases.
TL;DR: The patterns of differential staining based on the effects of BrdU-substitution in chromosomal DNA have been examined in both metaphase chromosomes and prematurely condensed chromosomes of interindividuals.
Abstract: The patterns of differential staining based on the effects of BrdU-substitution in chromosomal DNA have been examined in both metaphase chromosomes and prematurely condensed chromosomes (PCC) of inter
TL;DR: Chromosome analysis in a case of mixed gonadal dysgenesis with histological demonstration of both testicular structures and Müllerian derivatives demonstrates that both male-determining and H-Y genes are located on the short arm of the Y.
Abstract: Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Mullerian derivatives. Mosaicism 45,X0/46,X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the Y chromosome from the father. H-Y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.
Journal Article•
TL;DR: A case of the Cat-eye syndrome (CES) with 47,YX, + mar is presented and silver staining method revealed the marker chromosome to be bisatellited.
Abstract: A case of the Cat-eye syndrome (CES) with 47,YX, + mar is presented. Silver staining method revealed the marker chromosome to be bisatellited. This abnormal chromosome is interpreted as the product of a Robertsonian translocation between the short arm and satellites of chromosome 22 and short arm of another D-group chromosome, probably No. 13.
TL;DR: A sequential silver-Giemsa procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes, which differentially stains the secondary constriction of chromosome 9.
Abstract: A sequential silver-Giemsa (SG) procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes. A three sub-band division of the q11 band can be identified. The same technique differentially stains the secondary constriction of chromosome 9 as well as most other satellite III DNA regions of the human karyotype.
TL;DR: The identification of a deleted extra chromosome 22 by means of the DNA replication banding pattern is reported and its advantages and superiority in chromosome identification are described.
Abstract: The identification of a deleted extra chromosome 22 by means of the DNA replication banding pattern is reported. The characteristics of DNA replication banding, its advantages and superiority in chromosome identification are described.