Neurodevelopmental disorder
Fragile X syndrome was first described in 1943 by Martin and Bell, studying persons with family history of sex-linked "mental ... This disorder usually results from an extra chromosome 21, although in uncommon instances it is related to other chromosomal ... abnormalities such as translocation of the genetic material. It is characterized by short stature, epicanthal (eyelid) folds, ... Martin JP, Bell J (July 1943). "A pedigree of mental defect showing sex-linkage". Journal of Neurology and Psychiatry. 6 (3-4 ...
Non-random segregation of chromosomes
... three sex chromosomes (X1X2Y) are present, but only X1 is present as a univalent. In this case, segregation of sex chromosomes ... non-random segregation occurs when structurally abnormal chromosomes are present as a result of Robertsonian translocations. ... This is the case when the sex chromosomes (X and Y) do not pair during meiosis I. In this case, the unpaired chromosomes ... However, some species have multiple univalent sex chromosomes, and univalent B chromosomes may be added. They all segregate in ...
Gonadal dysgenesis
... is a sex development differnece associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. Mixed gonadal ... The loss of the Y chromosome can occur from deletions, translocations, or migration diffenernce of paired chromosomes during ... Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)". Seminars in Cell & ... XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model". Biology of Sex Differences. 9 (8): 8. doi:10.1186/ ...
Mutagen
... causing chromosomal breakages and rearrangement of the chromosomes such as translocation, deletion, and inversion. Such ... Sex-Linked Recessive Lethal Test - Males from a strain with yellow bodies are used in this test. The gene for the yellow body ... The chromosomes are stained and observed for any changes. Sister chromatid exchange is a symmetrical exchange of chromosome ... lies on the X-chromosome. The fruit flies are fed on a diet of test chemical, and progenies are separated by sex. The surviving ...
Chromosome
... sex chromosome(s)). Certain genetic traits are linked to a person's sex and are passed on through the sex chromosomes. The ... Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although ... Secondary chromosome Sex-determination system XY sex-determination system X-chromosome X-inactivation Y-chromosome Y- ... and two sex chromosomes. This gives 46 chromosomes in total. Other organisms have more than two copies of their chromosome ...
Meiotic recombination checkpoint
Meiotic sex chromosome inactivation only happens in male, which may partially be the reason why only Spo11 mutant spermatocytes ... not associated with substantial pachytene loss in heterozygous male mice carrying multiple simple robertsonian translocations ... Under this cascade, failure to synapse will maintain the gene expression from sex chromosomes and some products may inhibit ... Turner JM, Mahadevaiah SK, Elliott DJ, Garchon HJ, Pehrson JR, Jaenisch R, Burgoyne PS (November 2002). "Meiotic sex chromosome ...
Index of molecular biology articles
... sex chromosome - sex-linked - Shine-Dalgarno sequence - shotgun cloning - shotgun cloning or sequencing - shotgun sequencing - ... chromosome - chromosomal translocation - chromosome walking - CIS - cistron - clone (genetics) - clone (noun) - clone (verb) - ... yeast artificial chromosome) - Ycf9 protein domain - YchF-GTPase C terminal protein domain - Ydc2 protein domain - YDG SRA ... human artificial chromosome - Human Genome Project - human immunodeficiency virus - HumHot - Huntington's disease - ...
Malcolm Ferguson-Smith
"Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia". ... His work on mapping the Y-linked sex determinant in XX males led to the isolation of the mammalian sex-determining gene twenty- ... Baltimore where he worked on chromosome analysis for nearly three years, establishing the first human chromosome diagnostic ... Translocation of c-abl oncogene in chronic myelocytic leukaemia Early Prenatal Diagnosis (1983)[ISBN missing] Prenatal ...
R-spondin 1
RSPO1 is necessary in female sex development. It augments the WNT/β catenin pathway to oppose male sex development. In critical ... R-spondin-1 is a secreted protein that in humans is encoded by the RSPO1 gene, found on chromosome 1. In humans, it interacts ... When administered to normal mice, it causes nuclear translocation of β-catenin to this region. Modulation of the WNT/β catenin ... Male to female sex reversal, however, does not occur because Leydig cells remain normal. They are maintained by steroidogenic ...
SPRY3
The SPRY3 gene is one of the genes found in the pseudoautosomal regions of the human sex chromosomes (i.e. those 19 genes that ... Identification of a novel translocation domain". J. Biol. Chem. 275 (42): 32837-45. doi:10.1074/jbc.M002156200. PMID 10887178. ... 2002). "The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to ... are found on both the X and Y chromosome). It is located in the PAR2 region. "Human PubMed Reference:". National Center for ...
Short-stature homeobox gene
... and Y chromosome. Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as ... August 1994). "X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular ... Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy ... where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome. Since its ...
DISC1
The LOD for the chromosome 1 translocation and identification of schizophrenia alone in the Scottish family was found to be 3.6 ... "Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects ... cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings ... DISC1 translocation increases the risk of developing schizophrenia, bipolar disorder, or major depression by about 50-fold in ...
Genome
... refers to only one copy of each chromosome. Some eukaryotes have distinctive sex chromosomes such as the X and Y chromosomes of ... of coverage depth and mapping topology can provide details regarding structural variations such as chromosomal translocations ... Eukaryotic genomes are composed of one or more linear DNA chromosomes. The number of chromosomes varies widely from Jack jumper ... plus two sex chromosomes, making it diploid. Gametes, such as ova, sperm, spores, and pollen, are haploid, meaning they carry ...
Sex-determining region Y protein
XX male syndrome occurs when a body has female chromosomes and SRY attaches to one of them through translocation. People with ... Monotremes lack SRY and some of their sex chromosomes share homology with bird sex chromosomes. SRY is a quickly evolving gene ... "Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes". Genome Research. 18 (6): 965-73. doi: ... "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex- ...
Campomelic dysplasia
When the SRY gene of the Y chromosome is expressed in human embryos, a cascade of gene interactions controlled by SOX9 begins ... Translocation breakpoints scattered over 1Mb proximal to SOX9 indicate the presence of an extended control region.[citation ... Those patients with ambiguous genitalia or sex reversal at birth, of course, maintain that state, and are either sterile or ... Many different translocation breakpoints and related chromosomal aberrations in patients with CMD have been identified. In more ...
Zaprionus tuberculatus
The Z. tuberculatus genome has five rod-shaped chromosomes and one dot-shaped chromosome. The number of type of chromosomes, or ... Bennet-Clark, H. C.; Leroy, Y.; Tsacas, L. (1980-02-01). "Species and sex-specific songs and courtship behaviour in the genus ... which supports Muller's linkage conservation hypothesis and explains the scarcity of pericentric inversions and translocations ... When one male mounts another, both males sing, possibly to recognize sex or intimidation tactic to deter other males from ...
Nondisjunction
The term sex chromosome aneuploidy summarizes conditions with an abnormal number of sex chromosomes, i.e., other than XX ( ... Polar body diagnosis (PBD) can be used to detect maternally derived chromosomal aneuploidies as well as translocations in ... can also be classified as a form of sex chromosome aneuploidy. Klinefelter syndrome is the most common sex chromosome ... The extra Y chromosome is usually a result of nondisjunction during paternal meiosis II. Trisomy X is a form of sex chromosome ...
FOXP2
In this case, the child, known as CS, carried a chromosomal rearrangement (a translocation) in which part of chromosome 7 had ... non-sex chromosome) acting in a dominant fashion. This is one of the few known examples of Mendelian (monogenic) inheritance ... The researchers suggested that the gene is more active in "the more communicative sex". The expression of FOXP2 is subject to ... It is theorized that the translocation of the 7q31.2 region of the FOXP2 gene causes a severe language impairment called ...
Small supernumerary marker chromosome
Each member of the paired autosomal chromosomes is identified as chromosome 1 up to 22; the pair of sex chromosomes are ... This chromosome contains a balanced translocation between the q arm around band 24.13 of chromosome 8 and the q arm around band ... A derivative chromosome contains a balanced translocation, i.e. an even exchange between two chromosomes that results in no ... Rarely, CES results from a balanced translocation between a parent's paired chromosome 22. A balanced translocation is an even ...
Cytogenetics
Other numerical abnormalities discovered include sex chromosome abnormalities. A female with only one X chromosome has Turner ... Banding patterns are now used to elucidate the breakpoints and constituent chromosomes involved in chromosome translocations. ... The great apes have 48 chromosomes. Human chromosome 2 was formed by a merger of ancestral chromosomes, reducing the number. ... the abnormal chromosome was shown by Janet Rowley to be the result of a translocation of chromosomes 9 and 22. Identification ...
MAP3K1
... to mouse chromosome 13 and human chromosome 5". Mammalian Genome. 6 (11): 782-783. doi:10.1007/BF00539003. PMID 8597633. S2CID ... December 2010). "Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction ... August 2008). "Essential cytoplasmic translocation of a cytokine receptor-assembled signaling complex". Science. 321 (5889): ... June 2015). "MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis". Genes, Chromosomes & Cancer. 54 (6): 361-368. doi: ...
Giant eland
The study confirmed the presence of the chromosome translocation known as Robertsonian translocation (1;29), a widespread ... Both sexes have tightly spiraled, 'V'-shaped horns. They can be up to 124 cm (4.07 ft) long on males and 67 cm (2.20 ft) on ... The giant eland has 31 male chromosomes and 32 female chromosomes. In a 2008 phylogenomic study of spiral-horned antelopes, ... "Phylogenomic study of spiral-horned antelope by cross-species chromosome painting". Chromosome Research. 16 (7): 935-947. doi: ...
Supergene
Classic supergenes include many sex chromosomes, the Primula heterostyly locus, which controls "pin" and "thrum" types, and the ... This process might involve suppression of crossing-over, translocation of chromosome fragments and possibly occasional cistron ... "Divergence and Functional Degradation of a Sex Chromosome-like Supergene". Current Biology. 26 (3): 344-350. doi:10.1016/j.cub. ... Chromosome botany, p36. Allen & Unwin, London. Charlesworth D. and Charlesworth B. 1975. Theoretical genetics of Batesian ...
Human genetics
... and are called the homogametic sex. Males have two distinct sex chromosomes (XY), and are called the heterogametic sex. Sex ... and translocations. G-banding will stain the chromosomes with light and dark bands unique to each chromosome. A FISH, ... the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex ... The trait or gene will be located on a non-sex chromosome. Because it takes two copies of a trait to display a trait, many ...
Transvection (genetics)
In some cases, if one allele is placed on a different chromosome by a translocation, transvection does not occur. Transvection ... The physiological relevance of transvection has been, recently, documented in the context of sex-biased gene expression. In ... The first observation of mitotic (i.e. non-meiotic) chromosome pairing was discovered via microscopy in 1908 by Nettie Stevens. ... Transvection is an epigenetic phenomenon that results from an interaction between an allele on one chromosome and the ...
Cri du chat syndrome
... rings and de novo translocations). The deleted chromosome 5 is paternal in origin in about 80% of de novo cases. Loss of a ... Affected females reach puberty, develop secondary sex characteristics and menstruate at the usual time. The genital tract is ... Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ... A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved. Most cases involve total loss of ...
WNT4
... is a secreted protein that in humans is encoded by the WNT4 gene, found on chromosome 1. It promotes female sex ... "Activation of intracellular calcium by multiple Wnt ligands and translocation of β-catenin into the nucleus: a convergent model ... With no FGFR2, there is a partial sex reversal. With no FGF9, there is a full sex reversal. Both cases are rescued, though, by ... They later commit to sex determination, becoming either female or male under normal circumstances. Regardless of sex, though, ...
Androgen insensitivity syndrome
... sex of an individual was determined by the internal organs, and the external organs determined the "perceived" sex of an ... The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus ... mutations in the hinge region have been known to affect nuclear translocation, mutations in the DNA-binding domain have been ... Genetic females (46,XX karyotype) have two X chromosomes, thus have two AR genes. A mutation in one (but not both) results in a ...
Index of genetics articles
Sex chromosome Sex chromosomes Sex determination Sex linkage Sex linked Sex reversal Sex switch Sex-controlled trait Sex- ... Translocation Transposable element Transposition Transposon Transversion Trihybrid Triplet Triplet code Triploid Trisomic ... Chromosomal deletion Chromosome Chromosome aglet Chromosome banding Chromosome painting Chromosome region p Chromosome region q ... influenced trait Sex-lethal Sex-limited trait Sex-linked Sex-ratio phenotype Sexduction Sexual selection Sexual spore Shotgun ...
Aneuploidy
The 23rd pair of chromosomes are the sex chromosomes. Typical females have two X chromosomes, while typical males have one X ... and only one copy of part of the other chromosome involved in the derivative chromosome. Robertsonian translocations, for ... Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy is more dangerous than sex chromosome ... Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672-82. doi ...