Chapter 6. On to DNA Polymorphisms and the Y Chromosome (1984–)

2005 ◽  
pp. 135-159
Keyword(s):  
Y Chromosome ◽  
Dna Polymorphisms

Y chromosome DNA polymorphisms and their haplotypes in a Japanese population

1999 ◽  
Vol 1 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Yasuhisa Seo ◽  
Yasunari Takami ◽  
Tatsuo Nakayama ◽  
Keiichi Takahama
Keyword(s):  
Y Chromosome ◽  
Japanese Population ◽  
Dna Polymorphisms

Y-chromosome and mitochondrial DNA polymorphisms in Indian populations

1999 ◽  
Vol 20 (8) ◽  
pp. 1743-1747 ◽  
Author(s):  
Kumarasamy Thangaraj ◽  
Gutala V. Ramana ◽  
Lalji Singh
Keyword(s):  
Mitochondrial Dna ◽  
Y Chromosome ◽  
Dna Polymorphisms ◽  
Indian Populations

Analysis of DNA polymorphisms on the human Y-chromosome by microchip electrophoresis

2002 ◽  
Vol 23 (10) ◽  
pp. 1537 ◽  
Author(s):  
Mohammad Jabasini ◽  
Lihua Zhang ◽  
Fuquan Dang ◽  
Feng Xu ◽  
Mohamad R. Almofli ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Microchip Electrophoresis ◽  
Dna Polymorphisms ◽  
Human Y Chromosome

Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes

1990 ◽  
Vol 54 (4) ◽  
pp. 287-296 ◽  
Author(s):  
A. TC-RRONI ◽  
O. SEMINO ◽  
R. SCOZZARI ◽  
G. SIRUGO ◽  
G. SPEDINI ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Dna Polymorphisms ◽  
Human Populations

Sex reversal in C57BL/6J-Y POS mice corrected by a Sry transgene

1995 ◽  
Vol 350 (1333) ◽  
pp. 263-269 ◽  
Keyword(s):  
Inbred Strain ◽  
Y Chromosome ◽  
Ovarian Tissue ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Sex Reversal ◽  
Dna Polymorphisms ◽  
Mus Domesticus ◽  
Y Chromosomes ◽  
Strain Background

C57BL/6J mice carrying a Mus domesticus poschiavinus Y chromosome (Y POS ) develop as females with ovarian tissue or as hermaphrodites with ovarian and testicular tissue. We tested the hypothesis that the Y-linked component of this inherited sex reversal is caused by the M. d. poschiavinus Y-linked testis determining gene (symbolized Tdy or Sry ) by examining gonadal development in C57BL/6J XY POS mice carrying a M. musculus allele of Sry as a transgene. We found that in the presence of the transgene, XY POS mice developed exclusively testicular tissue. This result indicates that the Sry allele carried on the Y PDS chromosome is responsible for development of ovarian tissue in the G57BL/6J inbred strain background. We discuss this finding in light of DNA polymorphisms present in Sry alleles carried by various M. domesticus and M.musculus Y chromosomes. In addition, we present a hypothesis concerning the timing of expression of the testicular and ovarian determining genes in the developing fetal gonad based on the organization of ovarian and testicular tissue in ovotestes.

Application of Two Neutral Mspl DNA Polymorphisms in the Analysis of Hereditary Protein C Deficiency

1990 ◽  
Vol 64 (02) ◽  
pp. 239-244 ◽  
Author(s):  
P H Reitsma ◽  
W te Lintel Hekkert ◽  
E Koenhen ◽  
P A van der Velden ◽  
C F Allaart ◽  
...  
Keyword(s):  
Protein C ◽  
Stop Codon ◽  
Normal Population ◽  
Amino Acid Position ◽  
Rare Allele ◽  
Dna Polymorphisms ◽  
Type I ◽  
Protein C Deficiency ◽  
Gene Deletions ◽  
Allelic Frequencies

SummaryScreening of restriction erzyme digested DNA from normal and protein C deficient individuals with a variety of probes derived from the protein C locus has revealed the existence of two neutral MspI polymorphism. One polymorphism (MI), which is located ≈7 kb upstream of the protein C gene, has allelic frequencies of 69 and 31%, and was used to exclude extensive gene deletions as a likely cause of type I protein C deficiency in 50% of cases in a panel of 22 families. Furtherrnore, the same polymorphism has been used in 5 doubly affected individuals establishing compound heterozygosity in 3 of these.The second, intragenic, polymorphism (MII) has allelic frequencies of 99 and 1% in the normal population. The frequency of the rare allele of this RFLP was with 7% much higher in a panel of 22 Dutch families with protein C deficiency. Interestingly, in all three probands that were heterozygous for MII the rare allele of MII coincided with a point mutation that leads to a stop codon in amino acid position 306 of the protein C coding sequence. This mutation may account for 14% of the protein C deficient individuals in The Netherlands.

Sex determination and Y chromosome constitutive heterochromatin

2019 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Abyt Ibraimov
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Constitutive Heterochromatin ◽  
Sex Differentiation ◽  
Secondary Sexual Characteristics ◽  
Biological Meaning ◽  
Heterochromatin Block ◽  
Sexual Characteristics ◽  
Open Question ◽  
Efficient Elimination

In many animals, including us, the genetic sex is determined at fertilization by sex chromosomes. Seemingly, the sex determination (SD) in human and animals is determined by the amount of constitutive heterochromatin on Y chromosome via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the undifferentiated embryonic gonads (UEG) differ in vulnerability to the increase of the intracellular temperature. If the amount of the Y chromosome constitutive heterochromatin is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. Regardless of whether our assumption is true or not, it remains an open question why on Y chromosome there is a large constitutive heterochromatin block? What is its biological meaning? Does it relate to sex determination, sex differentiation and development of secondary sexual characteristics? If so, what is its mechanism: chemical or physical? There is no scientifically sound answer to these questions.

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